148 results on '"FIBULA abnormalities"'
Search Results
2. Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly.
- Author
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Yucel Celik O, Gultekin Calik M, Keles A, Tos T, Yucel A, and Sahin D
- Subjects
- Campomelic Dysplasia classification, Campomelic Dysplasia genetics, Diagnosis, Differential, Female, Foot Deformities, Congenital classification, Foot Deformities, Congenital genetics, Hand Deformities, Congenital classification, Hand Deformities, Congenital genetics, Humans, Male, Pregnancy, Syndactyly classification, Syndactyly genetics, Campomelic Dysplasia diagnosis, Fibula abnormalities, Fingers abnormalities, Foot Deformities, Congenital diagnosis, Hand Deformities, Congenital diagnosis, Prenatal Diagnosis methods, Syndactyly diagnosis, Tibia abnormalities, Toes abnormalities
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- 2021
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3. Prenatal diagnosis of fibular aplasia-tibial campomelia-oligosyndactyly syndrome: Two case reports and review of the literature.
- Author
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Marinho M, Nunes S, Lourenço C, Melo M, Godinho C, and Nogueira R
- Subjects
- Female, Humans, Male, Pregnancy, Prognosis, Campomelic Dysplasia diagnosis, Fibula abnormalities, Fingers abnormalities, Foot Deformities, Congenital diagnosis, Hand Deformities, Congenital diagnosis, Prenatal Diagnosis, Syndactyly diagnosis, Tibia abnormalities, Toes abnormalities
- Abstract
Fibular aplasia-tibial campomelia-oligosyndactyly also known as FATCO syndrome is a rare condition characterized by fibular aplasia, shortening and anterior bowing of the lower limb at the tibia with overlying soft tissue dimpling and oligosyndactyly. Its etiology is currently unknown, but there is a male predominance. There are less than 30 cases reported in the literature but only three with prenatal diagnosis. We report two cases of FATCO syndrome with prenatal lower limb malformation diagnosis. Identification of the ultrasound findings of this condition in the prenatal stages allows an adequate parental counselling regarding the clinical features, prognosis, and potential treatments., (© 2020 Wiley Periodicals LLC.)
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- 2021
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4. Congenital Pseudarthrosis of the Fibula: Controlling Ankle Valgus in a Heterogenous Condition.
- Author
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Wang KK, Vuillermin CB, Eisenberg KA, May CJ, and Kasser JR
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- Child, Female, Fractures, Bone etiology, Fractures, Bone surgery, Humans, Male, Outcome and Process Assessment, Health Care, Pseudarthrosis complications, Pseudarthrosis physiopathology, Pseudarthrosis surgery, Radiography, Retrospective Studies, Ankle Joint diagnostic imaging, Ankle Joint physiopathology, Ankle Joint surgery, Bone Malalignment diagnosis, Bone Malalignment etiology, Bone Malalignment prevention & control, Fibula abnormalities, Fibula injuries, Fibula surgery, Orthopedic Procedures methods, Pseudarthrosis congenital, Tibia diagnostic imaging, Tibia pathology, Tibia surgery
- Abstract
Background: Congenital pseudarthrosis of the fibula (CPF) is a rare disorder characterized by a deficiency in the continuity of the fibula and can lead to progressive ankle valgus malalignment. An existing classification system for CPF is imperfect and may contribute to heterogeneity in reporting and discrepancy of outcomes in the literature., Methods: Fifteen patients with CPF treated at our institution between 1995 and 2017 were retrospectively identified. Only patients with dysplasia leading to spontaneous fracture or pseudarthrosis were included in this series. The median age at presentation was 2.5 years (range: 3 mo to 13.4 y). The median duration of follow-up from the initial presentation was 11.8 years (range: 2.0 to 24 y). Chart review and serial radiographs were analyzed to assess natural history and outcomes following surgery., Results: The coexistence of tibial dysplasia in CPF is very common. Patients were classified into 3 groups based on the degree of tibial involvement-group 1: no evidence of tibial dysplasia, group 2: mild tibial dysplasia, and group 3: significant tibial dysplasia. Age at presentation and age at which fibular fracture occurred were progressively younger with a greater degree of tibial involvement (P<0.05). In the absence of surgical intervention, group 1 patients did not undergo progressive ankle valgus (defined as the valgus change in tibiotalar angle by ≥4 degrees), whereas all patients in groups 2 and 3 did (P<0.001). Fibular osteosynthesis was performed in 6 patients, with union seen only in group 1 patients. Ten patients underwent distal tibiofibular fusion, with no cases of nonunion seen. Distal tibiofibular fusion with or without medial distal tibial hemiepiphysiodesis halted the progression of ankle valgus in 8 of the 10 patients. Further progression of ankle valgus occurred only in patients who did not undergo concurrent medial distal tibial hemiepiphysiodesis and with considerable wedging of the distal tibial epiphysis at the time of fusion., Conclusions: Tibial dysplasia and CPF are intimately related. Grouping patients on this basis may help guide natural history and treatment and may explain discrepancies in findings in the literature. Fibular osteosynthesis, distal tibiofibular fusion, and medial distal tibial hemiepiphysiodesis may all have an important role in the treatment of CPF., Level of Evidence: Level IV-case series.
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- 2020
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5. Deformity progression in congenital posteromedial bowing of the tibia: a report of 44 cases.
- Author
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Di Gennaro GL, Gallone G, Martinez Vazquez EA, Marchesini Reggiani L, Racano C, Olivotto E, Stilli S, and Trisolino G
- Subjects
- Adolescent, Bone Lengthening, Child, Child, Preschool, Female, Fibula abnormalities, Fibula diagnostic imaging, Fibula growth & development, Humans, Infant, Infant, Newborn, Italy, Leg Length Inequality, Lower Extremity Deformities, Congenital diagnostic imaging, Lower Extremity Deformities, Congenital physiopathology, Male, Osteotomy, Radiography, Retrospective Studies, Tibia abnormalities, Tibia diagnostic imaging, Tibia growth & development, Fibula surgery, Leg pathology, Lower Extremity Deformities, Congenital pathology, Lower Extremity Deformities, Congenital surgery, Tibia surgery
- Abstract
Background: congenital posteromedial bowing of tibia (CPMBT) is a very rare birth defect, characterized by shortened bowed leg and ankle deformity. We described a single institution experience in the management of CPMBT., Methods: we identified 44 CPMBT in 44 children. The age at presentation was 5.5 ± 5.6 years and the mean age at the final review was 10.1 ± 4.8 years. Radiographic evaluation included the antero-posterior and lateral inter-physeal angle (AP-IPA and L-IPA), the limb length discrepancy (LLD), the morphology of the distal tibia and the lateral distal tibial angle (LDTA). During the study period, 26 children underwent surgical treatment., Results: the estimated curves showed a progressive spontaneous correction of both AP-IPA and L-IPA during growth, but a progressive increase of the LLD. The L-IPA showed a more predictable behaviour while the AP-IPA showed a scattered correction, with a wider variation of the estimated final angle. The final LDTA was 85.3° ± 4.2° and was correlated with the L-IPA (r = 0.5; p = 0.02). Among the 26 children who underwent surgical treatment, 23 cases had limb lengthening, 1 case had contralateral epiphysiodesis, 1 child underwent tibial osteotomy, 1 patient was treated by hemiepiphysiodesis of the distal tibia to correct ankle valgus deformity., Conclusions: our study described the largest case series of CPMBT. A combination of surgical treatments, in a staged surgical process, should be tailored to the developmental characteristics of this abnormality. An experience-based algorithm of treatment is also proposed. Further studies are needed to understand which is the best strategy to correct this deformity during childhood., Level of Evidence: level IV prognostic study.
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- 2020
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6. Management of Tibial Bow in Fibular Deficiency.
- Author
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Westberry DE, Carpenter AM, Barrera J, and Westberry A
- Subjects
- Adolescent, Child, Female, Humans, Male, Outcome and Process Assessment, Health Care, Retrospective Studies, Fibula abnormalities, Fibula diagnostic imaging, Fibula surgery, Foot Deformities, Acquired diagnosis, Foot Deformities, Acquired etiology, Foot Deformities, Acquired surgery, Osteotomy adverse effects, Osteotomy methods, Postoperative Complications diagnosis, Postoperative Complications etiology, Tibia diagnostic imaging, Tibia pathology, Tibia surgery
- Abstract
Background: Deformity of the tibia, including shortening and angulation, may accompany severe forms of postaxial hypoplasia (fibular deficiency). The current literature reflects varying opinions on the appropriate management for tibial deformity in the setting of fibular deficiency., Methods: We performed a retrospective review to determine outcomes of tibial deformity correction in patients with a primary diagnosis of fibular deficiency. Clinical and radiographic outcomes of patients treated with foot ablation were reviewed to establish indications for tibial deformity correction, identify occurrence of additional surgical procedures related to limb alignment or deformity, and characterize difficulties with prosthetic wear potentially related to residual or recurrent tibial deformity., Results: From 1989 to 2016, 51 patients (57 extremities) with fibular deficiency were managed with a foot ablation procedure. Twenty-five (44%) had simultaneous correction of the tibial deformity. The initial tibial deformity measured 42.5 degrees, was corrected to 5.6 degrees intraoperatively, and measured 18.6 degrees at follow-up, suggesting recurrent deformity. In follow-up, approximately half of the patients complained of redness and one third complained of a continued prominence along the anterior tibia. Thirty-two extremities had an isolated foot ablation procedure without tibial osteotomy. Radiographic review demonstrated mild tibial bowing at the time of amputation with a mean angular deformity of 15.4 degrees and remained unchanged during the follow-up period (mean, 12.7 degrees). Similar to the osteotomy group, approximately half of the patients complained of redness and erythema over the anterior bow, with one fourth noting prominence, and only 2 reporting significant pain., Conclusions: Tibial osteotomies in patients with more significant degrees of angular deformity can be safely performed at the same setting as foot ablative procedures for fibular deficiency. Recurrent deformity with growth may occur. Patients and their caregivers should be aware that rebound deformity may occur, but typically can be managed with prosthetic adjustment and without significant disruption to the child's daily activities., Level of Evidence: Level IV (case series).
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- 2020
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7. Widely Divergent Congenital Inferior Tibiofibular Diastasis with Separate Soft-Tissue Cover and Persistent Sciatic Artery: A Previously Unreported Combination: A Case Report.
- Author
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Bansal AV, Mehta R, and Agashe MV
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- Child, Preschool, Female, Fibula blood supply, Humans, Tibia blood supply, Diastasis, Bone congenital, Fibula abnormalities, Tibia abnormalities, Vascular Malformations etiology
- Abstract
Case: We report a case of a child with widely divergent congenital inferior tibiofibular diastasis with persistent sciatic artery (PSA). The dysplastic tibia and fibula were widely divergent, and the fibula was displaced proximally and medially with the foot alongside the thigh between the 2 legs, with PSA diagnosed on computed tomography angiogram. The child was treated with fibula-foot complex excision and below-knee prosthesis and was ambulating independently at 1-year follow-up., Conclusions: The combination of a major structural anomaly (tibiofibular diastasis with a separate soft-tissue cover) and an unusual vascular malformation (PSA) has not been reported previously and made surgical reconstruction challenging.
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- 2019
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8. Classification of Cruciate Ligament Dysplasia and the Severity of Congenital Fibular Deficiency.
- Author
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Walker JL, Milbrandt TA, Iwinski HJ, and Talwalkar VR
- Subjects
- Adolescent, Anterior Cruciate Ligament diagnostic imaging, Anterior Cruciate Ligament pathology, Child, Female, Humans, Male, Posterior Cruciate Ligament diagnostic imaging, Posterior Cruciate Ligament pathology, Retrospective Studies, Severity of Illness Index, Classification methods, Femur Head abnormalities, Femur Head diagnostic imaging, Fibula abnormalities, Fibula diagnostic imaging, Joint Diseases diagnosis, Knee Joint diagnostic imaging, Knee Joint surgery, Radiography methods, Tibia abnormalities, Tibia diagnostic imaging
- Abstract
Background: Dysplasia of the cruciate ligaments has been found in many patients with congenital fibular deficiency. A recent classification system has shown that radiographic tibial spine changes can predict the hypoplasia and aplasia of the cruciate ligaments. We used this radiographic classification to determine the frequency of these abnormalities and how they correlate with the severity of fibular deficiency and lateral femoral condylar hypoplasia., Methods: Using a hospital database search for fibular deficiency, 99 patients ≥6 years with unilateral fibular deficiency were identified. Existing radiographs of both knees were available for 75 patients and reviewed for the tibial spine changes and Achterman and Kalamchi classification of the fibular deficiency. Measurements of femoral condyle heights in 74 of 75 patients were recorded before any surgery to the distal femoral physis to assess lateral femoral condylar hypoplasia., Results: Twenty-two patients had hypoplasia of the lateral tibial spine+normal medial spine, 29 had absence of the lateral tibial spine+hypoplastic medial spine, and 11 had absence of both tibial spines. Five tibial spines were normal and 8 were unclassifiable. The severity of the tibial spine dysplasia, particularly absence of the lateral tibial spine, correlated with the severity of the fibular deficiency. (P<0.0001) The mean lateral femoral condylar hypoplasia, measured by involved: uninvolved lateral condyle heights, was 0.85±0.11. Those with some preservation of the lateral tibial spine had less lateral femoral condylar hypoplasia (P=0.0009). This lateral femoral condylar hypoplasia was positively associated with the severity of the fibular absence (P=0.039) and foot ray deficiency (P=0.036)., Conclusions: The severity of cruciate ligament dysplasia in fibular deficiency is directly correlated with the severity of fibular absence, lateral femoral condylar hypoplasia, and the absence of foot rays. This suggests that the embryological factors involved have a complex interplay for all of these clinical findings., Level of Evidence: Level III.
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- 2019
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9. The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly.
- Author
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Isik E, Atik T, and Ozkinay F
- Subjects
- Campomelic Dysplasia metabolism, Female, Fibula metabolism, Fibula physiopathology, Fingers physiopathology, Foot Deformities, Congenital metabolism, Hand Deformities, Congenital metabolism, Humans, Hydrocephalus physiopathology, Infant, Syndactyly metabolism, Syndrome, Tibia metabolism, Tibia physiopathology, Toes physiopathology, Campomelic Dysplasia diagnosis, Campomelic Dysplasia physiopathology, Fibula abnormalities, Fingers abnormalities, Foot Deformities, Congenital diagnosis, Foot Deformities, Congenital physiopathology, Hand Deformities, Congenital diagnosis, Hand Deformities, Congenital physiopathology, Syndactyly diagnosis, Syndactyly physiopathology, Tibia abnormalities, Toes abnormalities
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- 2019
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10. Abnormal alignment of the left lower extremity and irregular gait. 2-year-old male with abnormal alignment of the left lower extremity and irregular gait.
- Author
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Walsh P, Pinkney L, and Samim M
- Subjects
- Child, Preschool, Fibula diagnostic imaging, Gait, Humans, Lower Extremity diagnostic imaging, Lower Extremity Deformities, Congenital diagnostic imaging, Male, Radiography, Tibia diagnostic imaging, Tomography, X-Ray Computed, Fibrous Dysplasia, Polyostotic diagnostic imaging, Fibula abnormalities, Tibia abnormalities
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- 2018
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11. Distal tibiofibular synostosis following non-operative treatment of ankle fractures.
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Matar HE and Sanger R
- Subjects
- Ankle Fractures therapy, Fibula diagnostic imaging, Humans, Male, Radiography, Synostosis diagnosis, Synostosis diagnostic imaging, Tibia diagnostic imaging, Tomography, X-Ray Computed, Ankle Fractures complications, Fibula abnormalities, Synostosis etiology, Tibia abnormalities
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- 2018
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12. Proximal tibiofibular synostosis.
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Kaptan AY and Atik OŞ
- Subjects
- Arthralgia etiology, Fibula diagnostic imaging, Humans, Knee Joint diagnostic imaging, Male, Tibia diagnostic imaging, Young Adult, Fibula abnormalities, Knee Joint abnormalities, Synostosis diagnostic imaging, Tibia abnormalities
- Abstract
A 22-year-old male patient admitted to our clinic with mild pain in left knee. Pain had started 10 years ago and there was no history of trauma. Pain was increased with kneeling. No abnormality was detected on physical examination. Imaging results revealed proximal tibiofibular synostosis in left knee.
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- 2017
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13. Growth Modulation in Achondroplasia.
- Author
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McClure PK, Kilinc E, and Birch JG
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- Achondroplasia complications, Bone Plates, Child, Child, Preschool, Female, Femur abnormalities, Femur diagnostic imaging, Fibula abnormalities, Fibula diagnostic imaging, Genu Varum complications, Genu Varum surgery, Humans, Male, Radiography, Retrospective Studies, Tibia abnormalities, Tibia diagnostic imaging, Achondroplasia surgery, Femur surgery, Fibula surgery, Osteotomy methods, Tibia surgery
- Abstract
Introduction: Achondroplasia is the most common skeletal dysplasia with a rate of nearly 1/10,000. The development of lower extremity deformity is well documented, and various modes of correction have been reported. There are no reports on the use of growth modulation to correct angular deformity in achondroplasia., Methods: Medical Records from 1985 to 2015 were reviewed for the diagnosis of achondroplasia and growth modulation procedures. Patients who had been treated for angular deformity of the legs by growth modulation were identified. A detailed analysis of their medical record and preoperative and final lower extremity radiographs was completed., Results: Four patients underwent growth modulation procedures, all to correct existing varus deformity of the legs. Three of the 4 patients underwent bilateral distal femoral and proximal tibial growth modulation. The remaining patient underwent tibial correction only. Two of the 4 patients had a combined proximal fibular epiphysiodesis. All limbs had some improvement of alignment; however, 1 patient went on to bilateral osteotomies. Only 1 limb corrected to a neutral axis with growth modulation alone at last follow-up, initial implantation was done before 5 years of age., Conclusions: Growth modulation is an effective means for deformity correction in the setting of achondroplasia. However implantation may need to be done earlier than would be typical for patients without achondroplasia. Osteotomy may still be required after growth modulation for incomplete correction.
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- 2017
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14. Proximal femoral focal deficiency associated with fibular duplication and diplopodia and complete agenesis of the tibia: a case report.
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Chawathe VS, Gaur AK, Athani BD, and Gupta S
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- Adolescent, Amputation, Surgical, Artificial Limbs, Femur abnormalities, Femur surgery, Fibula diagnostic imaging, Foot Deformities, Congenital diagnostic imaging, Heart Defects, Congenital, Humans, Male, Tibia diagnostic imaging, Abnormalities, Multiple surgery, Fibula abnormalities, Polydactyly, Tibia abnormalities, Toes abnormalities
- Abstract
A 14-year-old boy reported with congenital deformity of the left lower limb, with gross shortening, hip and knee flexion deformities, ankle with equinus deformity, and polydactyly of the left foot. Radiologic examination showed proximal femoral focal deficiency, double fibula, and duplication of the tarsal bones, and a diagnosis of 'proximal femoral focal deficiency associated with fibular duplication and diplopodia with complete agenesis of tibia' was made. Such association of deformities is very rare and poses difficulties in rehabilitation of the case. This patient was managed with elective knee disarticulation, early prosthetic fitment, and gait training.
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- 2017
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15. Relationship between postoperative complications and fibular integrity in congenital pseudarthrosis of the tibia in children.
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Liu YX, Mei HB, Zhu GH, He RG, Liu K, Tang J, Wu JY, Ye WH, Hu X, Tan Q, Yan A, Huang SX, Tan XQ, and Lei T
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- Child, Female, Humans, Incidence, Male, Pseudarthrosis surgery, Retrospective Studies, Risk Factors, Fibula abnormalities, Postoperative Complications epidemiology, Pseudarthrosis congenital, Tibia abnormalities
- Abstract
Background: This study aimed to investigate the relationship between postoperative complications and fibular integrity in congenital pseudarthrosis of the tibia (CPT) in children., Methods: A retrospective study was performed in 59 patients with Crawford type IV CPT who were treated with combined surgical technique from 2007 to 2011. The patients were divided into two groups, the CPT with fibular pseudarthrosis (group A) and CPT with intact fibula groups (group B), on the basis of fibula status after the union of CPT. The incidence rates of refracture, ankle valgus, tibial valgus, and limb length discrepancy in the two groups were investigated., Results: In group A, 14 (36.8%) cases had refracture, 30 (78.9%) had ankle valgus; 27 (71%) exhibited tibial valgus with an average tibial valgus of 7° (6°-20°), and 24 (63.2%) had limb length discrepancy with an average limb length of 1.26 cm (0.6-4.4 cm). In group B, 2 (9.5%) cases had refracture, 11 (52.4%) had ankle valgus, 8 (42.9%) had tibial valgus with an average tibial valgus deformity of 2.9° (6°-13°), and 13 (61.9%) had limb length discrepancy with an average limb length of 1.48 cm (0.5-5 cm). Significant difference in refracture and ankle valgus was found between groups A and B (P<0.05)., Conclusions: After the union of CPT, patients with fibular pseudarthrosis showed higher incidence of refracture and ankle valgus than those with intact fibula. Attention should be paid to the presence of fibular pseudarthrosis when managing CPT.
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- 2017
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16. FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, Oligosyndactyly with Talar Aplasia). A Case Study.
- Author
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Ahmad K, Ahmad Malla H, and Dawood S
- Subjects
- Campomelic Dysplasia physiopathology, Child, Preschool, Fibula physiopathology, Fingers physiopathology, Foot Deformities, Congenital physiopathology, Hand Deformities, Congenital physiopathology, Humans, India, Limb Deformities, Congenital physiopathology, Male, Syndactyly physiopathology, Tibia physiopathology, Toes physiopathology, Treatment Outcome, Campomelic Dysplasia diagnosis, Campomelic Dysplasia therapy, Fibula abnormalities, Fingers abnormalities, Foot Deformities, Congenital diagnosis, Foot Deformities, Congenital therapy, Hand Deformities, Congenital diagnosis, Hand Deformities, Congenital therapy, Limb Deformities, Congenital diagnosis, Limb Deformities, Congenital therapy, Rare Diseases diagnosis, Rare Diseases therapy, Syndactyly diagnosis, Syndactyly therapy, Tibia abnormalities, Toes abnormalities
- Abstract
FATCO syndrome consists of fibular hemimelia, tibial campomelia and oligosyndactyly. FATCO syndrome can also be associated with other congenital anomalies; therefore, every case needs thorough evaluation so as to make the management of the patient easier. A few cases of this syndrome have been described in literature but only two cases have been reported in India so far. We present a 3-year-old male child born of a non-con-sanguinous marriage with FATCO syndrome and ipilateral talar aplasia without any other congenital anomalies.
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- 2017
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17. Unclassified tibial hemimelia.
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Senthil V, Kottamttavide IV, and Shah H
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- Child, Female, Fibula diagnostic imaging, Humans, Leg abnormalities, Prostheses and Implants, Radiography, Synostosis, Tibia diagnostic imaging, Abnormalities, Multiple, Ectromelia diagnostic imaging, Fibula abnormalities, Tibia abnormalities
- Abstract
Tibial hemimelia (congenital longitudinal deficiency of the tibia) is rare (1 in 1 000 000). There are several classifications in the literature. We report an unclassified case of tibial hemimelia. A 6-year-old girl presented with shortening of the right lower limb, with a small rudimentary foot (presence of all toes) and hyper lax ankle. Quadriceps function was excellent. Radiograph showed a partial tibia and fibula in synostosis. The Jones and Kalamachi type 2 classifications both mention similar tibial anomalies; however, the fibula is normal in both varieties. The present variety can be considered as a variant of type 2 tibial hemimelia., (2016 BMJ Publishing Group Ltd.)
- Published
- 2016
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18. [A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly].
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D'Amato Gutiérrez M and Palacio Díaz FA
- Subjects
- Humans, Infant, Newborn, Male, Campomelic Dysplasia diagnosis, Fibula abnormalities, Fingers abnormalities, Foot Deformities, Congenital diagnosis, Hand Deformities, Congenital diagnosis, Syndactyly diagnosis, Tibia abnormalities, Toes abnormalities
- Abstract
The FATCO syndrome, (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) are bone malformations with main alteration in lower limbs. It is a rare entity and there are few cases reported in international literature, and so far there are not published cases in Colombia. Here we present a case of a male newborn with prenatal and postnatal signs consistent with FATCO syndrome without other organs malformations, and there is a brief discussion about this syndrome and other different malformations associated with it., (Sociedad Argentina de Pediatría.)
- Published
- 2016
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19. Prevention of recurrence of tibia and ankle deformities after bone lengthening in children with type II fibular hemimelia.
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Popkov A, Aranovich A, and Popkov D
- Subjects
- Ankle Joint surgery, Child, Child, Preschool, Ectromelia complications, Ectromelia diagnostic imaging, Ectromelia physiopathology, Female, Fibula diagnostic imaging, Humans, Male, Radiography, Plastic Surgery Procedures, Recurrence, Retrospective Studies, Tarsal Bones surgery, Tibia diagnostic imaging, Bone Development, Ectromelia surgery, Fibula abnormalities, Fibula surgery, Ilizarov Technique, Tibia physiopathology, Tibia surgery
- Abstract
Purpose: This study aimed to evaluate development of the tibia after Ilizarov lengthening and deformity correction depending on whether or not the simultaneous resection of fibular anlage was performed in children with fibular aplasia type II, who did not undergo early surgery., Methods: The study analyses results of reconstructive treatment in 38 children at the age of over four years. Two groups of children are compared: bifocal tibial lengthening with the Ilizarov device (group I) and bifocal lengthening associated with resection of the fibular anlage (group II). The results were estimated at 12 months and in the long-term exceeding three years., Results: Radiological data of measurement of the anatomical lateral distal tibial angle (aLDTA) show surgical correction of deformities achieved in both groups. During the further limb growth a tendency to normalisation of the aLDTA was observed only in the group II. Quick relapse of the angular deformities of the tibial shaft in the first group occurred mainly during further growth of the limb regardless of complete correction at the time of treatment. On the other hand, there were no recurrences of diaphyseal deformities in the group II., Conclusions: In children with congenital fibular deficiency of type II at the age of four years, the bone lengthening and deformity correction should be associated with fibular anlage resection. That approach improves conditions for distal tibia development and prevents or decreases significantly the recurrence of deformities of the tibia and ankle joint in long-term follow-up.
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- 2015
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20. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.
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Flöttmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, Yasui N, Spranger J, Van Esch H, Lyons MJ, DuPont BR, Dwivedi A, Klopocki E, Horn D, Mundlos S, and Spielmann M
- Subjects
- Acetyltransferases genetics, Base Sequence, Comparative Genomic Hybridization, Cyclin-Dependent Kinase 5 genetics, E2F3 Transcription Factor genetics, Fibula pathology, Humans, Inhibitor of Differentiation Proteins genetics, Membrane Proteins genetics, Molecular Sequence Data, Radius pathology, Real-Time Polymerase Chain Reaction, SOXC Transcription Factors, Sequence Analysis, DNA, Tibia pathology, Ulna pathology, tRNA Methyltransferases, Chromosome Aberrations, Chromosomes, Human, Pair 6 genetics, Fibula abnormalities, Inhibitor of Differentiation Proteins metabolism, Leg abnormalities, Osteochondrodysplasias genetics, Osteochondrodysplasias pathology, Radius abnormalities, Sequence Deletion genetics, Tibia abnormalities, Ulna abnormalities
- Abstract
Introduction: Mesomelic dysplasias are a group of skeletal disorders characterised by shortness of the middle limb segments (mesomelia). They are divided into 11 different categories. Among those without known molecular basis is mesomelic dysplasia Savarirayan type, characterised by severe shortness of the middle segment of the lower limb., Objective: To identify the molecular cause of mesomelic dysplasia Savarirayan type., Methods and Results: We performed array comparative genomic hybridisation in three unrelated patients with mesomelic dysplasia Savarirayan type and identified 2 Mb overlapping de novo microdeletions on chromosome 6p22.3. The deletions encompass four known genes: MBOAT1, E2F3, CDKAL1 and SOX4. All patients showed mesomelia of the lower limbs with hypoplastic tibiae and fibulae. We identified a fourth patient with intellectual disability and an overlapping slightly larger do novo deletion also encompassing the flanking gene ID4. Given the fact that the fourth patient had no skeletal abnormalities and none of the genes in the deleted interval are known to be associated with abnormalities in skeletal development, other mutational mechanisms than loss of function of the deleted genes have to be considered. Analysis of the genomic region showed that the deletion removes two regulatory boundaries and brings several potential limb enhancers into close proximity of ID4. Thus, the deletion could result in the aberrant activation and misexpression of ID4 in the limb bud, thereby causing the mesomelic dysplasia., Conclusions: Our data indicate that the distinct deletion 6p22.3 is associated with mesomelic dysplasia Savarirayan type featuring hypoplastic, triangular-shaped tibiae and abnormally shaped or hypoplastic fibulae., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)
- Published
- 2015
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21. Fibular aplasia, tibial campomelia, and oligosyndactyly: a further patient with a 2-year follow-up.
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Sezer O, Gebesoglu I, Yuan B, Karaca E, Gokce E, and Gunes S
- Subjects
- Adolescent, Adult, Campomelic Dysplasia diagnostic imaging, Child, Preschool, Female, Fibula diagnostic imaging, Fibula pathology, Fingers diagnostic imaging, Fingers pathology, Follow-Up Studies, Foot Deformities, Congenital diagnostic imaging, Hand Deformities, Congenital diagnostic imaging, Humans, Infant, Infant, Newborn, Male, Pregnancy, Radiography, Syndactyly diagnostic imaging, Tibia diagnostic imaging, Tibia pathology, Toes diagnostic imaging, Toes pathology, Campomelic Dysplasia pathology, Fibula abnormalities, Fingers abnormalities, Foot Deformities, Congenital pathology, Hand Deformities, Congenital pathology, Syndactyly pathology, Tibia abnormalities, Toes abnormalities
- Published
- 2014
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22. Congenital posteromedial bowing of the tibia and fibula: treatment option by multilevel osteotomy.
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Napiontek M and Shadi M
- Subjects
- Bone Regeneration, Child, Child, Preschool, Female, Fibula surgery, Follow-Up Studies, Humans, Lower Extremity Deformities, Congenital diagnostic imaging, Male, Radiography, Retrospective Studies, Tibia surgery, Treatment Outcome, Fibula abnormalities, Lower Extremity Deformities, Congenital surgery, Osteotomy methods, Tibia abnormalities
- Abstract
Few papers have described patients treated surgically with single osteotomy for congenital posteromedial bowing of the tibia and fibula. Only one paper has described two-level osteotomy for deformity correction: the first for deformity correction and the second for bone lengthening. There are no publications describing the surgical correction of deformation only by the method of multilevel tibial and fibular osteotomy. Research material included four children aged between 3.1 and 5.1 years (average age: 3.7 years) who were operated upon for bowing of the tibia and fibula exceeding 35° in the coronal plane. In all cases, tibial osteotomy was carried out at three or two levels accompanied by fibular osteotomy, and with intramedullary stabilization using K-wires (three patients) or Rush pin (one patient). Follow-up ranged from 3 to 7.7 years. In all cases, axis correction and bone healing were achieved. In large congenital posteromedial bowing of the tibia and fibula, a multilevel tibial and fibular osteotomy may be a better solution than an orthosis or a long time waiting for a spontaneous correction of the deformation. Large circumferential periosteal release that accompanied the surgery influenced the stimulation of bone growth. It may induce the process of lower limbs' equalization not to require the application of intensive surgical procedures.
- Published
- 2014
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- View/download PDF
23. Diaphyseal tibiofibular synostosis in a runner.
- Author
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Kobayashi S, Miyazaki T, Takeno K, and Arakawa A
- Subjects
- Adult, Humans, Imaging, Three-Dimensional, Magnetic Resonance Imaging, Male, Multimodal Imaging, Synostosis surgery, Tomography, X-Ray Computed, Fibula abnormalities, Pain etiology, Running, Synostosis diagnosis, Tibia abnormalities
- Abstract
Diaphyseal tibiofibular synostosis is a very rare cause of shin and ankle pain. A 35-year-old male presented with complaints of left shin and ankle pain of 3 years duration that was sometimes worse after running a few miles. One year before presenting to our hospital, the actual cause for his pain was missed when only lumbar radiographs were taken at another institution. A full-length tibia film revealed a diaphyseal tibiofibular synostosis at our hospital. The presence of a synostosis should alert the surgeon to search for the various abnormalities usually associated with this condition. Magnetic resonance imaging and enhanced 3-dimensional computed tomography are essential to rule out the possibility of a neoplastic process and to determine its relation to the neurovascular structures. Simple excision of the synostosis can provide excellent symptomatic relief with a minimal risk of complications., (Copyright © 2013 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.)
- Published
- 2013
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24. Long-term follow-up of congenital distal tibiofibular diastasis: a report of two female patients.
- Author
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Skolan V, Šmigovec I, Ðapić T, and Antičević D
- Subjects
- Ankle Joint diagnostic imaging, Ankle Joint surgery, Female, Fibula diagnostic imaging, Fibula surgery, Follow-Up Studies, Humans, Infant, Joint Diseases diagnostic imaging, Joint Diseases surgery, Leg Length Inequality diagnostic imaging, Leg Length Inequality surgery, Radiography, Tibia diagnostic imaging, Tibia surgery, Time Factors, Treatment Outcome, Ankle Joint abnormalities, Fibula abnormalities, Ilizarov Technique, Joint Diseases congenital, Leg Length Inequality congenital, Osteotomy methods, Tibia abnormalities
- Abstract
Congenital diastasis of the inferior tibiofibular joint is an extremely rare variant of dysplastic tibial anomaly, which is usually associated with significant shortening of the lower leg and ipsilateral foot deformity due to talus incarceration in the distal tibiofibular mortise. The purpose of this study was to present the long-term results of reconstructive treatment and the functional outcome after a follow-up of 11-16 years. The principles of extremity preservation and reconstruction with the Ilizarov frame have shown a stable ankle joint, a plantigrade foot, and fully independent outdoor ambulation in both patients at the final follow-up. We concluded that amputation should not be performed under this condition.
- Published
- 2013
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- View/download PDF
25. [Posttraumatic complications after pediatric ankle injuries].
- Author
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Schneider FJ and Linhart WE
- Subjects
- Child, Child, Preschool, Female, Fibula injuries, Humans, Infant, Infant, Newborn, Male, Tibia injuries, Ankle Fractures, Ankle Injuries complications, Bone Diseases, Developmental diagnosis, Bone Diseases, Developmental etiology, Fibula abnormalities, Tibia abnormalities
- Abstract
Ankle sprains are common injuries in childhood and are generally harmless. However, fractures of the ankle joint are rare, but complications (persistent rotational or axial deformity, alteration of growth of the distal tibia or fibula, or joint deformity) can lead to serious problems during growth. The clinical relevance of growth disturbances at the distal tibia or fibula depends on the age at the time of fracture more than on the fracture type, severity of dislocation, or interponated material in the fracture gap. Both stimulation and inhibition of growth are possible. Inhibition of growth at the distal tibial growth plate regularly leads to varus deformity and shortening. This is of clinical importance as this type of growth disturbance is the most common. Valgus deformity is rare, mostly due to persistent axial deviation of an insufficiently reduced fracture. Transitional fractures always occur at the time of growth plate closure; thus, growth disturbances do not play a role. Transitional fractures could be overlooked or treated insufficiently, leading to a step or gap of the joint surface.
- Published
- 2013
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26. [Clubfoot associated with tibial and fibular hemimelia].
- Author
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Eberhardt O, Langendörfer M, Fernandez FF, and Wirth T
- Subjects
- Adolescent, Adult, Casts, Surgical, Clubfoot etiology, Female, Humans, Male, Treatment Outcome, Young Adult, Clubfoot rehabilitation, Ectromelia complications, Ectromelia rehabilitation, Fibula abnormalities, Immobilization methods, Musculoskeletal Manipulations methods, Tibia abnormalities
- Abstract
Aim: Clubfoot is rarely associated with tibial or fibular hemimelia. Treatment is complex and in most of the cases extensive surgery is required. At present experience with Ponseti casting is limited. We describe casting and surgical treatment of 10 clubfeet associated with tibial and fibular hemimelia., Material and Method: Between 1.1.2004 and 31.12.2009 398 clubfeet were treated with casting in our institution. In the same period 10 clubfeet were associated with fibular or tibial hemimelia. Treatment started in 9 clubfeet with Ponseti manipulation and casting. We used the classification of Weber for tibial hemimelia and the Kalamchi-Achterman classification and Paley classification for fibular hemimelia. Data of all patients were prospectively documented and the result of the foot deformity was evaluated before a first lengthening procedure. Documentation included patient data, associated foot pathologies, surgical procedures, functional results. Functional results were evaluated before the first lengthening procedure started., Results: Three patients had tibial hemimelia, two Weber type 1, one Weber type 2, one Weber type 3. five patients had fibular hemimelia, Paley type IV or Kalamchi-Achterman Type IA. One child had bilateral fibular hemimelia. The prospective leg length discrepancy ranged from 3.2 cm to 14 cm. Four feet had initially a successful treatment with casting. In a type 2 according to Weber we performed an ankle reconstruction procedure to correct tibiofibular diastases. Four feet underwent PMR. We had four relapses. Two equinus relapses were treated with a posterior release. Two severe relapses were finally corrected with resection of the coalition and midfoot osteotomies. In a Weber type 3 case a complex reconstruction was performed using an Ilisarov and a TSF frame. Functional results showed in a mean follow-up of 42.2 months (24-72 months) a dorsiflexion between 5 and 20° (Ø 7.7°) and a plantarflexion between 10 and 40° (Ø 26.1°)., Conclusion: Treatment of clubfoot associated with tibial or fibular hemimelia with the Ponseti technique is limited because of complex hindfoot deformities including tarsal coalitions. Nevertheless treatment after birth starts with casting. Only mild cases of hemimelia without coalition can be corrected with the Ponseti technique. In a case of tibiofibular diastasis successful casting is possible, but extensive surgery is often necessary. In more severe cases we do not recommend casting. In these cases surgical treatment, including posteromedial release, osteotomies for the hindfoot, resection of coalitions or complex osteotomies with Ilisarov or TSF frame is the treatment of choice., (Georg Thieme Verlag KG Stuttgart · New York.)
- Published
- 2012
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27. [Crus valgum congenitum].
- Author
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Huber S, Schuh A, and Schraml A
- Subjects
- Child, Child, Preschool, Fibula diagnostic imaging, Humans, Infant, Infant, Newborn, Leg Length Inequality diagnostic imaging, Leg Length Inequality rehabilitation, Muscular Atrophy diagnostic imaging, Muscular Atrophy rehabilitation, Orthotic Devices, Osteotomy, Physical Therapy Modalities, Radiography, Remission, Spontaneous, Splints, Tibia diagnostic imaging, Bone Diseases, Developmental diagnostic imaging, Bone Diseases, Developmental rehabilitation, Fibula abnormalities, Tibia abnormalities
- Published
- 2012
- Full Text
- View/download PDF
28. A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature.
- Author
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Ekbote AV and Danda S
- Subjects
- Abnormalities, Multiple genetics, Fibula diagnostic imaging, Genetic Predisposition to Disease, Hand Deformities, Congenital diagnosis, Hand Deformities, Congenital diagnostic imaging, Hand Deformities, Congenital genetics, Humans, Infant, Male, Musculoskeletal Abnormalities diagnosis, Musculoskeletal Abnormalities diagnostic imaging, Musculoskeletal Abnormalities genetics, Radiography, Rare Diseases, Risk Assessment, Syndactyly diagnostic imaging, Syndactyly genetics, Syndrome, Tibia diagnostic imaging, Abnormalities, Multiple diagnosis, Fibula abnormalities, Klinefelter Syndrome diagnosis, Syndactyly diagnosis, Tibia abnormalities
- Abstract
Unlabelled: Limb development is a complex regulated development phenomenon involving multiple genes. Fibular Aplasia, Tibial Campomelia and Oligosyndactyly (FATCO) syndrome (MIM#246570) is a syndrome of unknown genetic basis and inheritance with variable expressivity and penetrance. Its counterpart, Fuhrmann syndrome or Femoral-Fibularaplasia-Campomelia and Oligosyndactyly are a result of defect in the WNT7a gene located on the 3p25. Former is proposed to be a development dysplasia of defective dorso-ventral polarity assignment and distal limb development. Ectrodactyly and fibular a/hypoplasia (EFA, MIM# 113310) share the full phenotypic spectrum of FATCO syndrome, whether they are allelic disorders or represent two variable presentations in the spectrum of the same disorder is not an established fact. We report here one Indian patient with findings of FATCO syndrome with associated Klinefelter syndrome. This is the first such report which is likely to be a co-incidental finding and has implications for genetic counseling., Levels of Evidence: Therapeutic, Level IV.
- Published
- 2012
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29. Tibiofibular torsion in congenital clubfoot.
- Author
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Farsetti P, Dragoni M, and Ippolito E
- Subjects
- Achilles Tendon surgery, Adolescent, Adult, Casts, Surgical, Child, Child, Preschool, Clubfoot diagnostic imaging, Clubfoot therapy, Combined Modality Therapy, Female, Fibula diagnostic imaging, Humans, Male, Tibia diagnostic imaging, Tomography, X-Ray Computed, Torsion Abnormality diagnostic imaging, Torsion Abnormality therapy, Treatment Outcome, Young Adult, Clubfoot pathology, Fibula abnormalities, Tibia abnormalities, Torsion Abnormality pathology
- Abstract
Tibiofibular torsion was measured by computed tomography in three series of patients affected by congenital clubfoot who were treated with different protocols. The normal leg of unilateral deformities served as the control. For the bilateral cases, only the right side was included in the study. The angle between the bicondylar axis of the tibia and the bimalleolar axis was the index of tibiofibular torsion. There were 34 clubfeet in the first series, treated with a posteromedial release, and 40 clubfeet in the second series, treated with a modified Ponseti method, whereas the third series included 16 clubfeet, treated with the original Ponseti method. All 90 clubfeet were graded at birth as group 3 according to the Manes classification. No patient had previous treatment. The patients of the first and the second series were followed up to maturity, whereas the patients of the third series were followed up to a maximum of 11 years of age. In the congenital clubfoot, the tibia and the fibula were externally rotated, in comparison with the normal leg; in fact, the average value of the angle of tibiofibular torsion was 32.2° in the first series, 23.9° in the second series, and 21.1° in the third series. In the normal tibiae, the average value of the angle of tibiofibular torsion was 21.4°. The difference between the first series and the normal controls was statistically significant, as was the difference between the first one and the other two series. The value of the tibiofibular torsion angle seems to be related to the manipulation technique used to treat clubfoot: when the manipulation does not allow a progressive eversion of the talus underneath the calcaneus, the external tibial torsion increases. At follow-up, an intoeing gait was present in seven treated clubfeet of the first series. In all of them except one, the highest value of the external tibial torsion angle was observed, with a low value of the Kite's angle and/or residual forefoot adduction. In the treated congenital clubfoot, persistent intoeing is not related to the angle of tibial torsion but rather to the amount of correction of calcaneal inversion and residual forefoot adduction.
- Published
- 2012
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30. Residual malformations and leg length discrepancy after treatment of fibular hemimelia.
- Author
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Alaseirlis DA, Korompilias AV, Beris AE, and Soucacos PN
- Subjects
- Achilles Tendon surgery, Child, Child, Preschool, Femur diagnostic imaging, Femur surgery, Fibula diagnostic imaging, Fibula surgery, Follow-Up Studies, Humans, Incidence, Infant, Infant, Newborn, Longitudinal Studies, Male, Osteotomy, Radiography, Reoperation, Retrospective Studies, Tibia diagnostic imaging, Tibia surgery, Treatment Outcome, Bone Lengthening methods, Ectromelia surgery, Femur abnormalities, Fibula abnormalities, Leg Length Inequality epidemiology, Tibia abnormalities
- Abstract
Background: Fibular hemimelia has been reported as the most common congenital longitudinal deficiency of the long bones. Previous studies have focused on the best treatment options for this congenital condition. There is very little to our knowledge in the literature focused on residual persisting malformations and leg length discrepancy after treatment., Methods: Seven patients presenting fibular hemimelia in eight fibulae received treatment between years 1988 and 2001. Pre-treatment average leg length discrepancy was 5.3 cm. All patients presented associated congenital deformities of the ipsilateral leg. Six patients received surgical treatment. Average post-treatment follow up was 9.7 years. Residual malformations and leg length discrepancy were recorded for all patients. It is a retrospective case series study at one institution by two of the presenting authors as senior surgeons., Results: Average leg length gained after successful bone lengthening in six patients was 5.06 cm. Although there was a significant functional improvement, a number of residual malformations and leg length inequality was recorded. Residual average leg length discrepancy of 3.1 cm was observed in five patients who completed surgical treatment. Five patients presented a limp. Residual anterior-medial bowing of the tibia was observed in four patients. Calf atrophy was present in all seven patients. Valgus deformity of the ankle was remained in two patients., Conclusions: Treatment of fibular hemimelia, even in cases graded as successful, showed to be accompanied by a number of persisting residual deformities and recurrent leg length inequality. Although the number of patients is limited, the high rate of this phenomenon is indicative of the significance of the report. The family and the patients themselves should have the right expectations and will be more co-operative when well informed about this instance. A report of common post-treatment residual deformities should be valuable in best possible treatment planning of fibular hemimelia.
- Published
- 2011
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31. FATCO syndrome--fibular aplasia, tibial campomelia and oligosyndactyly.
- Author
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Vyskocil V, Dortova E, Dort J, and Chudacek Z
- Subjects
- Brachydactyly, Ectodermal Dysplasia diagnosis, Fibula abnormalities, Foot Deformities, Congenital diagnosis, Hand Deformities, Congenital diagnosis, Humans, Infant, Newborn, Male, Syndrome, Campomelic Dysplasia diagnosis, Syndactyly diagnosis, Tibia abnormalities, Toes abnormalities
- Published
- 2011
- Full Text
- View/download PDF
32. Congenital postero-medial bowing of the tibia and fibula: is early surgery worthwhile?
- Author
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Johari AN, Dhawale AA, Salaskar A, and Aroojis AJ
- Subjects
- Age Factors, Casts, Surgical, Child, Child, Preschool, Cohort Studies, Female, Fibula abnormalities, Follow-Up Studies, Genu Varum rehabilitation, Humans, Leg Length Inequality diagnosis, Leg Length Inequality surgery, Limb Deformities, Congenital diagnosis, Limb Deformities, Congenital rehabilitation, Limb Deformities, Congenital surgery, Male, Retrospective Studies, Risk Assessment, Severity of Illness Index, Splints, Tibia abnormalities, Treatment Outcome, External Fixators, Fibula surgery, Genu Varum congenital, Genu Varum surgery, Osteotomy methods, Tibia surgery
- Abstract
We report the results of surgical treatment of congenital postero-medial bowing of the tibia and fibula. Twenty patients with congenital postero-medial bowing were seen with nine patients treated surgically (corrective osteotomy or lengthening and deformity correction with Ilizarov fixator) and 11 patients managed conservatively. The angles of medial and posterior angulation and limb length discrepancy were recorded serially and compared. Surgical complications were recorded. The mean follow-up was 9.5 and 6.1 years after surgery. Although there was a reduction in angulation and correction of limb length discrepancy, we encountered complications in the surgically treated patients. There was no statistically significant difference between the surgically treated and conservatively managed groups with respect to mean angulation, though there was a significant difference in the mean limb length discrepancy. In conclusion, we advocate a one-stage lengthening and correction of the residual deformity closer to skeletal maturity.
- Published
- 2010
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33. Tibiofibular synostosis--an unusual case during vascularized fibula flap harvest.
- Author
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Lubek J, Shihabi A, and Salama A
- Subjects
- Ameloblastoma surgery, Fibula blood supply, Fibula surgery, Humans, Incidental Findings, Male, Mandible surgery, Mandibular Neoplasms surgery, Middle Aged, Oral Surgical Procedures, Plastic Surgery Procedures, Fibula abnormalities, Surgical Flaps blood supply, Synostosis, Tibia abnormalities, Tissue and Organ Harvesting
- Published
- 2010
- Full Text
- View/download PDF
34. A male newborn infant with fatco syndrome (fibular aplasia, tibial campomelia and oligodactyly): a case report.
- Author
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Karaman A and Kahveci H
- Subjects
- Female, Genetic Carrier Screening, Humans, Infant, Newborn, Male, Phenotype, Pregnancy, Syndrome, Ultrasonography, Prenatal, Abnormalities, Multiple genetics, Campomelic Dysplasia genetics, Ectromelia genetics, Fibula abnormalities, Syndactyly genetics, Tibia abnormalities, Toes abnormalities
- Abstract
We report a male infant with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome). Radiographs showed a short angulated left tibia with fibular aplasia and ipsilateral oligodactyly. We consider our case the 7th patient with FATCO syndrome.
- Published
- 2010
35. Congenital posteromedial bowing of the tibia: a retrospective analysis of growth abnormalities in the leg.
- Author
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Shah HH, Doddabasappa SN, and Joseph B
- Subjects
- Child, Child, Preschool, Female, Fibula abnormalities, Fibula diagnostic imaging, Fibula growth & development, Humans, Infant, Infant, Newborn, Leg Length Inequality, Limb Deformities, Congenital diagnostic imaging, Limb Deformities, Congenital physiopathology, Male, Radiography, Retrospective Studies, Tibia diagnostic imaging, Tibia growth & development, Leg pathology, Limb Deformities, Congenital pathology, Tibia abnormalities
- Abstract
We studied case records and radiographs of 20 children with congenital posteromedial bowing of the tibia (CPMBT) retrospectively to determine the pattern of correction of the bowing, the associated growth abnormalities of the tibia and fibula, and the role of surgical intervention in CPMBT. The magnitude of diaphyseal bowing in two planes and the physeal inclination were measured. Abnormalities of ossification of the distal tibial epiphysis and inclination of the distal articular surface if present were noted and shortening of the tibia was recorded. The rate of resolution of deformity was noted from sequential radiographs and expressed as percentage reduction per month of follow-up. At initial presentation the magnitude of deformity varied; the most severe posterior diaphyseal bow was 70 degrees whereas the most severe medial diaphyseal bow was 64 degrees. Two distinct mechanisms seem to be responsible for resolution of the deformity in CPMBT; one involves physeal realignment and the other involves diaphyseal remodeling. In the first year of life, rapid resolution of angulation was noted; the rate of resolution reduced significantly thereafter. In a proportion of children with CPMBT residual deformity may persist till over 4 years of age. Physeal realignment occurred at a faster rate than diaphyseal remodeling. The degree of shortening was related to the severity of bowing and shortening as great as 40% was noted in a patient. Wedging of the distal tibial epiphysis and fibular hypoplasia with valgus inclination of the distal tibial articular surface occur in some children with CPMBT. Eccentric ossification of the distal tibial epiphysis in early childhood may be a predictor of wedging of the distal tibial epiphysis later on. We recommend all the children with CPMBT to be followed up periodically till skeletal maturity, to identify cases with residual bowing, ankle deformity, muscle weakness, and limb length inequality as active surgical intervention may be needed to correct these problems.
- Published
- 2009
- Full Text
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36. Tibia vara deformity after below knee amputation and synostosis formation in children.
- Author
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Segal LS and Crandall RC
- Subjects
- Adolescent, Child, Child, Preschool, Databases, Factual, Fibula abnormalities, Humans, Infant, Male, Orthopedic Procedures methods, Osteotomy methods, Postoperative Complications etiology, Retrospective Studies, Synostosis complications, Tibia surgery, Young Adult, Amputation, Surgical, Artificial Limbs, Synostosis etiology, Tibia abnormalities
- Abstract
Background: Progressive varus deformity of the tibia in pediatric patients after transtibial and Syme amputations has not been reported in a series. A distal tibia to fibula synostosis, created surgically to minimize the risk of terminal overgrowth or occurring spontaneously, was noted in most patients. The goals of this study are to address the causes of the deformity, the implications for prosthetic wear, and potential treatment options., Methods: Twelve patients identified from the juvenile amputee database at 2 centers developed progressive varus deformity of the residual limb. One patient had bilateral involvement. A distal tibia-fibula synostosis was noted in 12 (92%) of the residual limbs, and in one, a fibrous union was suspected. The level of amputation was trans-tibial in 10 patients, and Syme amputation in 3 patients. Two patients had acquired trans-tibial level of amputation from congenital constriction band syndrome. Nine of the patients (75%) were between the ages of 3 and 5 years at the time of injury., Results: The mean proximal medial tibial angle was 80.5 degrees (range, 75-85 degrees). Ten of the patients underwent procedures to correct the mechanical axis and resolve or prevent problems with prosthetic fitting. Four patients has proximal tibial osteotomies (HTO), 2 oblique closing wedge osteotomies, 1 shaft osteotomy, and 4 lateral proximal tibial hemi-epiphyseodesis. In 2 patients, no correction was recommended., Conclusions: The presence of a distal tibia-fibula synostosis in pediatric amputee patients may contribute to the risk of developing a progressive varus deformity and should be monitored during a child's growth. Distal tibiofibular synostosis may disrupt normal differential longitudinal growth and may contribute to this progressive angular deformity. Severe deformity may require prosthetic modifications or operative correction to provide for a normal mechanical axis. Lateral hemiepiphyseodesis of the proximal tibia can be effective if the deformity is detected early. We do not recommend creation of a synostosis in the young child for terminal growth., Level of Evidence: Level 4.
- Published
- 2009
- Full Text
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37. [Fibular dimelia].
- Author
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Sułko J
- Subjects
- Fibula diagnostic imaging, Fibula surgery, Foot Deformities, Congenital pathology, Humans, Male, Muscle, Skeletal abnormalities, Radiography, Tibia diagnostic imaging, Tibia surgery, Toes diagnostic imaging, Toes surgery, Young Adult, Fibula abnormalities, Foot Deformities, Congenital diagnostic imaging, Foot Deformities, Congenital surgery, Tibia abnormalities, Toes abnormalities
- Abstract
It is presented an extremely rare condition characterised by total absence of tibia and fibular dimelia. Only few patients were presented till now. Our patient was observed and treated for 19 years. He was born with normal forearms (radiologically ulna and radius were present), syndactyly of hands, mirror feet and extremely equinus. The knees were normal in flexion and dislocated in extension. Radiologically there was total absent of tibia and duplication of fibula; moreover there was duplication of toes (right foot--9, left foot--10 toes), metatarsal bones, cuneiform, cuboid and calcaneal bone. Although the unstable knees and equinus feet deformities he was able to walk indenpendently.
- Published
- 2009
38. Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.
- Author
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Steichen-Gersdorf E, Gassner I, Superti-Furga A, Ullmann R, Stricker S, Klopocki E, and Mundlos S
- Subjects
- Animals, Bone Diseases diagnostic imaging, Female, Fibula diagnostic imaging, Foot Deformities, Congenital genetics, Gene Expression Regulation, Developmental, Humans, In Situ Hybridization, Infant, Infant, Newborn, Mice, Radiography, Tibia diagnostic imaging, Bone Diseases genetics, Chromosome Deletion, Chromosomes, Human, Pair 2 genetics, Fibula abnormalities, Nuclear Proteins genetics, Tibia abnormalities
- Abstract
Nievergelt syndrome (NS) is an autosomal dominant mesomelic dysplasia characterized by specific deformities of the radius, ulna, fibula and a rhomboid shape of the tibia. Phenotypically overlapping conditions such as mesomelic dysplasia, Savarirayan-type (MIM 605274), have been described, but their pathogenesis also remains unknown. We report on a girl with fibular agenesis, severely abnormal, triangular tibiae, urogenital tract malformations, failure to thrive, convulsions and recurrent apnoeas leading to respiratory arrest at the age of 4 months. Her skeletal findings correspond to those of the mesomelic dysplasia, Savarirayan-type recently described in two patients. In addition to the skeletal findings, our patient had central nervous system manifestations and developmental anomalies of the urogenital tract. In the patient described in this study, array comparative genomic hybridization (CGH) analysis revealed a de novo interstitial microdeletion of 500 kb on chromosome 2q11.1 containing the LAF4/AFF3 (lymphoid-nuclear-protein-related AF4) gene. In situ hybridization analysis of Laf4 in mouse embryos revealed expression in the developing brain, in the limb buds and in the zeugopod corresponding to the limb phenotype. Haploinsufficiency for LAF4/AFF3 is associated with limb, brain and urogenital malformations and specific changes of the tibia that are part of the NS spectrum.
- Published
- 2008
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- View/download PDF
39. Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula.
- Author
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Teo HE, Peh WC, Akhilesh M, Tan SB, and Ishida T
- Subjects
- Fibrous Dysplasia of Bone diagnosis, Fibrous Dysplasia of Bone surgery, Humans, Infant, Newborn, Magnetic Resonance Imaging, Male, Pseudarthrosis diagnosis, Pseudarthrosis surgery, Fibrous Dysplasia of Bone congenital, Fibula abnormalities, Pseudarthrosis congenital, Tibia abnormalities
- Abstract
The association between congenital pseudoarthrosis and osteofibrous dysplasia of the tibia and fibula is a rare entity that has been recently recognized. We report a male newborn who was found to have swelling and deformity of the left lower leg. Radiographs and magnetic resonance imaging showed an extensive destructive lesion of the tibial shaft, with dysplastic congenital pseudoarthrosis of the lower fibula. Histopathological examination confirmed the diagnosis of congenital pseudoarthrosis of the tibia and fibula with underlying osteofibrous dysplasia involving both bones. Immunohistochemical stains showed cytokeratin positivity.
- Published
- 2007
- Full Text
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40. Letter re: fibula aplasia, tibial campomelia, and oligodactyly.
- Author
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Evans JA and Elliott AM
- Subjects
- Abnormalities, Multiple diagnosis, Abnormalities, Multiple genetics, Fingers abnormalities, Humans, Karyotyping, Syndrome, Toes abnormalities, Abnormalities, Multiple pathology, Fibula abnormalities, Limb Deformities, Congenital pathology, Tibia abnormalities
- Published
- 2006
- Full Text
- View/download PDF
41. Proximal tibiofibular synostosis as a source of ankle pain: a case report.
- Author
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Lenin Babu V, Shenbaga N, Komarasamy B, and Paul A
- Subjects
- Ankle, Humans, Male, Middle Aged, Radiography, Synostosis diagnostic imaging, Fibula abnormalities, Pain etiology, Synostosis complications, Tibia abnormalities
- Abstract
We report the case of a 61-year-old man who presented with ankle pain of unknown etiology. The actual cause for his pain was missed during his two initial visits when only ankle radiographs were taken. During his third visit, a full-length tibia film revealed a proximal tibiofibular synostosis. He successfully underwent a fibular osteotomy with complete symptomatic relief. A literature review of this topic is presented.
- Published
- 2006
42. Congenital unilateral posteromedial bowing of the tibia and fibula: insights regarding pathogenesis from prenatal pathology. A case report.
- Author
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De Maio F, Corsi A, Roggini M, Riminucci M, Bianco P, and Ippolito E
- Subjects
- Female, Fibula pathology, Humans, Male, Musculoskeletal Abnormalities etiology, Musculoskeletal Abnormalities pathology, Pregnancy, Tibia pathology, Fibula abnormalities, Musculoskeletal Abnormalities physiopathology, Tibia abnormalities
- Published
- 2005
- Full Text
- View/download PDF
43. Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature.
- Author
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Courtens W, Jespers A, Harrewijn I, Puylaert D, and Vanhoenacker F
- Subjects
- Abnormalities, Multiple genetics, Fingers abnormalities, Humans, Infant, Newborn, Karyotyping, Male, Syndrome, Toes abnormalities, Abnormalities, Multiple pathology, Fibula abnormalities, Limb Deformities, Congenital pathology, Tibia abnormalities
- Abstract
We report on a male newborn with a rarely described congenital limb deficiency syndrome consisting of shortening and anterior bowing of the right lower limb at the distal third of the tibia with associated overlying soft tissue dimpling, oligodactyly of the right foot, and a left-sided oligosyndactyly of the hand. The right hand and left lower limb were clinically normal. Radiographic examination revealed complete absence of the right fibula, absence of the right-sided Vth ray, and anterior bowing and shortening of the right-sided tibia. Femora, humeri, ulnae, and radii were normal. The infant had neither facial dysmorphia nor other associated anomalies. A limb deficiency syndrome comparable to this case has been reported in a female by Hecht and Scott, the only report classified under OMIM 246570 so far. We found two other reports describing three cases comparable to our case and the female reported by Hecht and Scott, and reviewed these cases. The major common findings in all the five cases consist of fibular aplasia, tibial campomelia, and oligosyndactyly. Therefore, we propose to name it fibular aplasia-tibial campomelia-oligosyndactyly (FATCO) syndrome. Additional case reports are needed for further delineation of this rare limb deficiency syndrome.
- Published
- 2005
- Full Text
- View/download PDF
44. Congenital diastasis of the inferior tibiofibular joint: case report and treatment analysis.
- Author
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Bajuifer S and Letts M
- Subjects
- Abnormalities, Multiple diagnostic imaging, Algorithms, Clubfoot diagnostic imaging, Female, Humans, Infant, Newborn, Radiography, Abnormalities, Multiple therapy, Ankle Joint abnormalities, Clubfoot therapy, Fibula abnormalities, Tibia abnormalities
- Published
- 2004
45. [Diagnostic image (182). A neonate with a bend in one lower leg. Posteromedial bowing of tibia and fibula].
- Author
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Snijders C, Verbeke JI, and van Elburg RM
- Subjects
- Female, Fibula growth & development, Humans, Infant, Newborn, Leg Length Inequality, Tibia growth & development, Fibula abnormalities, Infant, Premature growth & development, Tibia abnormalities
- Abstract
A preterm girl was born with posteromedial bowing of the left lower leg, and dorsiflexion and calcaneovalgus position of the left foot. The bend reduced spontaneously.
- Published
- 2004
46. Fuhrmann syndrome: two Brazilian cases.
- Author
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Huber J, Volpon JB, and Ramos ES
- Subjects
- Humans, Infant, Infant, Newborn, Male, Radiography, Tibia diagnostic imaging, Toes diagnostic imaging, Fibula abnormalities, Fingers abnormalities, Polydactyly genetics, Tibia abnormalities, Toes abnormalities
- Abstract
We describe two unrelated boys with bilateral fibula aplasia, poly- and oligodactyly, and bowed tibiae in two non-consanguineous Brazilian families. These cases are similar to those reported by Fuhrman et al. [(1980). Skeletal Dysplasias. New York: Alan R. Liss Inc. pp. 519-524].
- Published
- 2003
- Full Text
- View/download PDF
47. Bilateral congenital diastasis of the inferior tibiofibular joint.
- Author
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Keskín D
- Subjects
- Child, Fibula diagnostic imaging, Fibula surgery, Humans, Joints surgery, Male, Orthopedic Procedures, Radiography, Tibia diagnostic imaging, Tibia surgery, Torsion Abnormality congenital, Torsion Abnormality diagnostic imaging, Torsion Abnormality surgery, Walking, Fibula abnormalities, Joints abnormalities, Tibia abnormalities
- Abstract
Bilateral congenital inferior tibiofibular diastasis is an extremely rare anomaly of unknown etiology. A few cases have been reported previously. The author presents a case in which bilateral tibiofibulotalar arthrodesis was performed.
- Published
- 2002
- Full Text
- View/download PDF
48. Fibular hemimelia: comparison of outcome measurments after amputation and lengthening.
- Author
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McCarthy JJ, Glancy GL, Chnag FM, and Eilert RE
- Subjects
- Adolescent, Child, Child, Preschool, Ectromelia physiopathology, Fibula surgery, Humans, Infant, Leg physiopathology, Pain Measurement, Patient Satisfaction, Prosthesis Fitting, Recovery of Function physiology, Retrospective Studies, Treatment Outcome, Amputation, Surgical, Bone Lengthening, Ectromelia surgery, Fibula abnormalities, Tibia surgery
- Abstract
Background: Treatment of fibular hemimelia includes either Syme or Boyd amputation with early prosthetic fitting or tibial lengthening. Numerous studies have documented the success of both procedures. The purpose of our study was to compare the outcome after amputation with that after tibial lengthening, specifically with regard to activity restrictions, pain, satisfaction, complications, number of procedures, and cost, in children with fibular hemimelia., Methods: Thirty limbs in twenty-five patients treated with either an amputation or a lengthening procedure and followed for at least two years were studied. Fifteen patients underwent amputation, and ten patients underwent lengthening of the tibia. The mean age was 1.2 years at the time of amputation and 9.7 years at the time of initial lengthening. The mean duration of follow-up was 6.9 years after the amputations and 7.1 years after the lengthening procedures., Results: The patients who underwent amputation were able to perform more activities than those who had a lengthening (mean activity score, 0 compared with 1.2 points; p<0.05), and they had less pain (mean pain score, 0.2 compared with 1.2 points; p = 0.091), were more satisfied and had a lower complication rate (0.37 compared with 1.91; p<0.05). The patients who underwent amputation also had fewer procedures (1.9 compared with 7.0; p<0.05), at a lower cost ($7016 compared with $26,900; p<0.05), than those who had a lengthening. Lengthening was successful in equalizing limb lengths; the mean limb-length discrepancy, assessed in nine of eleven limbs, was 0.7 centimeter., Conclusions: This study demonstrated that children who undergo early amputation are more active, have less pain, are more satisfied, have fewer complications, undergo fewer procedures, and incur less cost than those who undergo lengthening. This was true even though good results were obtained with the lengthening procedures and most patients achieved limb-length equality, were able to walk, had minimal pain, and were quite active.
- Published
- 2000
- Full Text
- View/download PDF
49. New mesomelic dysplasia with absent fibulae and triangular tibiae.
- Author
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Savarirayan R, Cormier-Daire V, Curry CJ, Nashelsky MB, Rappaport V, Rimoin DL, and Lachman RS
- Subjects
- Bone Diseases, Developmental genetics, Congenital Abnormalities diagnostic imaging, Congenital Abnormalities genetics, Female, Humans, Infant, Radiography, Bone Diseases, Developmental diagnostic imaging, Fibula abnormalities, Tibia abnormalities
- Abstract
We report on two unrelated, sporadic cases of a mesomelic dysplasia characterized by absence of fibulae and severely hypoplastic, triangular-shaped tibiae. Moderate mesomelic shortness was present in the upper limbs with proximal widening of the ulnae. There was also axial skeletal involvement in both cases, characterized radiographically by an abnormal pelvis and marked bilateral glenoid hypoplasia. These cases appear to represent a new form of mesomelic dysplasia distinct from those previously delineated., (Copyright 2000 Wiley-Liss, Inc.)
- Published
- 2000
- Full Text
- View/download PDF
50. Wedge-shaped distal tibial epiphysis in the pathogenesis of equinovalgus deformity of the foot and ankle in tibial lengthening for fibular hemimelia.
- Author
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Choi IH, Lipton GE, Mackenzie W, Bowen JR, and Kumar SJ
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Clubfoot diagnostic imaging, Epiphyses diagnostic imaging, Epiphyses surgery, Female, Femur abnormalities, Femur surgery, Humans, Ilizarov Technique, Leg Length Inequality surgery, Male, Osteotomy methods, Postoperative Complications, Radiography, Tibia abnormalities, Tibia diagnostic imaging, Treatment Outcome, Clubfoot etiology, Clubfoot surgery, Epiphyses abnormalities, Fibula abnormalities, Tibia surgery
- Abstract
Fibular hemimelia is associated with an equinovalgus deformity of the foot and ankle and different degrees of wedging of the distal tibial epiphysis. This deformity is often a major problem during lengthening of the shortened tibia. To determine the significance of the wedge-shaped distal tibial epiphysis in the pathogenesis of the equinovalgus deformity of the foot and ankle during and after lengthening, we reviewed 20 patients who had undergone tibial lengthening by either the Wagner or the Ilizarov technique. The mean duration of follow-up after removal of the fixator was 5.2 years (range, 2.3-9.7 years). Three types of wedge-shaped distal tibial epiphyses were identified. A mildly wedged (type I) epiphysis was found in seven patients, a moderately wedged (type II) epiphysis was found in seven patients, and a severely wedged (type III) epiphysis, in six patients. Premature fusion of the lateral part of the distal tibial physis and growth retardation of the tibia were common after lengthening in patients with the type II or type III epiphysis. After lengthening, all patients with a type II or type III epiphysis had a recurrence or aggravation of foot deformities that existed before lengthening. This usually necessitated various secondary operative procedures to obtain a plantigrade foot. We believe that after lengthening, one should anticipate varying degrees of mild growth retardation and minimal foot deformity in patients with type I epiphysis, worsened asymmetric growth retardation and progressive foot deformity in patients with type II epiphysis, and severe growth retardation and severe foot deformity in patients with type III epiphysis.
- Published
- 2000
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