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Gollop-Wolfgang complex is defined as the presence of a distal bifid femur and tibial hemimelia with or without hand ectrodactyly. The condition commonly presents with several skeletal abnormalities and internal organ congenital defects. We hereby report a case with a classical presentation of Gollop-Wolfgang complex.

Tibial hemimelia is a rare congenital anomaly, may be in isolated form or combined with other congenital anomalies. Different classification systems had been used for classification. While inferior tibio-fibular joint diastasis is a well-known accompanying deformity in subtypes of different classification systems; complete diastasis of tibia and fibula is not included in either of classification systems. Case 1: A 15 days infant presented to our unit with complete diastasis of tibia and fibula from the level of the knee joint. Case 2: A four weeks old boy with a partial distal diastasis of tibia and fibula from the level of mid leg downward, with almost completely separate skin envelop for each part of the bone. A search in the English literature for reported cases with complete diastasis of tibia and fibula and different classification systems for tibial hemimelia was done. No reported cases in the literature with complete diastasis of tibia and fibula finally, we suggest modifying the current classification systems for tibial hemimelia to include complete diastasis of tibia and fibula as a variant.

Limb deficiency disorders are rare, etiologically heterogeneous skeletal dysplasias that occur as an isolated anomaly or as a part of a syndrome. The term limb deficiency incorporates both absence and size reduction of any of the 120 human limb bones, with around 205 identified abnormalities. Congenital absence of tibia is a rare and severe lower limb malformation with an incidence of approximately 1:1,000,000 live births. Absence of tibia with ectrodactyly (lobster claw deformity) or tibial hemimelia with split hand/foot malformation (TH-SHFM) or Gollop-Wolfgang complex is a rarer malformation with highly variable manifestations.

Tibial hemimelia is a rare disease characterized by the absence or hypoplasia of the tibia. Because of the difficulties of reconstruction due to joint involvement in more severe cases, knee disarticulation and above-knee amputations are a treatment option. We report the case of a patient treated with knee disarticulation amputation and pedicled foot fillet flap. Level of Evidence V; Therapeutic Studies; Expert Opinion.

We describe a technique for optimal use of fibula in reconstruction of type II tibial hemimelia. Six affected children with mean age of 1.4 years and treated over a 5-year period were reviewed. All underwent staged reconstruction by lowering the fibula to below knee level using Ilizarov soft tissue distraction, transfer of distal fibula under proximal tibia, and foot centralization. Mean follow-up period was 3.6 years (range: 1.6-6.05 years). Mean age at follow-up was 4.4 years, and increase in length was 4.08 cm. Tibiofibular union and foot centralization were universally achieved. Mild residual equinovarus deformity was present in three children and braced. Our technique allowed significant length gain and foot centralization in toddlers without distraction osteogenesis.

Tibial hemimelia is a relatively rare congenital tibial longitudinal deficiency (approximately 1 per 1 million live births), unilateral or bilateral, with a relatively intact fibula. Hemimelia results from a disruption of the lower limb developmental field during embryogenesis due to slow or even abort of chondrification process, which results in leg length discrepancy. Affected leg commonly appears short and deformed with knee, ankle, and foot involvement. It may present with a variety of associated anomalies. Surgical treatment varies according to the type and degree of deformity, and reconstructive interventions are still limited. Reported cases of tibial hemimelia are very infrequent, especially tibial hemimelia in twins. Usually, the cases were in single embryo or less frequently in one of the monozygotic twins, but no reported cases regarding tibial hemimelia in one of the dizygotic twins as this article reports.

Aims The treatment of tibial aplasia is controversial. Amputation represents the gold standard with good functional results, but is frequently refused by the families. In these patients, treatment with reconstructive limb salvage can be considered. Due to the complexity of the deformity, this remains challenging and should be staged. The present study evaluated the role of femoro-pedal distraction using a circular external fixator in reconstructive treatment of tibial aplasia. The purpose of femoro-pedal distraction is to realign the limb and achieve soft tissue lengthening to allow subsequent reconstructive surgery. Methods This was a retrospective study involving ten patients (12 limbs) with tibial aplasia, who underwent staged reconstruction. During the first operation a circular hexapod external fixator was applied and femoro-pedal distraction was undertaken over several months. Subsequent surgery included reconstruction of the knee joint and alignment of the foot. Results The mean follow-up was 7.1 years (2 to 10). The mean age of the patients at the time of the application of the fixator was 2.3 years (1.1 to 5.0). The mean time under distraction was 139.7 days (81.0 to 177.0). A mean fibular distalization of 38.7 mm (14.0 to 67.0) was achieved. Pin infections occurred in four limbs (33.3%) and osteitis in one. A femoral fracture occurred in one patient. Premature removal of the frame was not required in any patient. Sufficient realignment of the leg as well as soft tissue lengthening was achieved in all patients, allowing subsequent reconstruction. All patients were able to mobilize fully weight bearing after reconstruction. Functional outcome was limited in all limbs, and five patients (50.0%) required additional reconstructive operations. Conclusion Regarding the functional results in the treatment of tibial aplasia, amputation remains superior to limb salvage. The latter procedure should only be performed in patients whose parents refuse amputation. Femoro-pedal distraction efficiently prepares the limb by realigning the leg and soft tissue lengthening. Minor complications are frequent, but usually do not hinder the continuation of distraction. Even though a fully weight-bearing limb is achieved, the functional outcome of reconstructive treatment remains limited. Recurrent deformities frequently occur and may require further operations. Cite this article: Bone Joint J 2020;102-B(9):1248–1255.

We report a nine-year-old boy with a type IIIa tibial hemimelia, according to the new Paley classification. We describe the x-ray findings, the surgical treatment technique, and the prognostic course of the patient. Descriptions of such cases are very infrequent in the literature and type of treatment is still object of debate. Keywords: Tibial hemimelia, Leg reconstruction, Correction of pediatric deformity, Paley classification, Weber classification, Jones classification

Objectives: Tibial hemimelia is a rare congenital disease with hypoplasia or agenesia of the tibia. In patients with complete tibial aplasia, treatment is controversial. Through-knee amputation used to be the gold standard, but with improved surgical methods, various reconstructive treatment options[for full text, please go to the a.m. URL], Deutscher Kongress für Orthopädie und Unfallchirurgie (DKOU 2019)

Background Tibial hemimelia is a rare but disabling condition. Although reconstructive methods have been described, the recommended treatment typically has been amputation at various levels followed by the use of a suitable prosthesis. A new technique known as femoro-fibulo-calcaneal arthrodesis has been developed as a limb-salvage procedure for patients with type-I deficiency who refuse amputation or have no access to good prosthetic care. Methods Twelve children (18 extremities) with type-I tibial hemimelia were managed surgically. The ages of the patients at the time of surgery ranged from 2 to 14 years. The procedure includes 3 stages: loosening, lengthening, and stabilization. In all patients, the loosening stage involved release of soft-tissue contractures at both ends of the fibula. The lengthening stage involved either supervised lengthening at home with use with use of an external fixator (6 patients) or the use of traction in the hospital (6 patients). In all patients, the stabilization stage was subsequently performed by stabilizing the fibula to the femoral condyles proximally and the talus distally with use of crossed Kirschner wires. Results All 12 patients returned for follow-up for the first 5 years. All patients were evaluated by author. Two patients who had ipsilateral femoral focal deficiency were subsequently lost to follow-up. The remaining 10 patients were followed for a mean of 10 years (range, 5 to 32 years). All 10 patients were able to walk on their feet during follow-up. None of the patients in the present study had an amputation or needed a prosthesis. There were no major complications. Conclusions A new procedure, femoro-fibulo-calcaneal arthrodesis, has been proposed for the treatment of type-I tibial hemimelia. The suggested procedure is simple, biological, cost-effective, and dependable. It provides a long-term stable and functional extremity that enables the patient to walk with plantigrade feet with sensation and proprioception. This limb-saving procedure should be considered as an alternative for patients who refuse to lose the limb or for whom good prosthetic care is unavailable. Level of evidence Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.

Lower limb deficiency syndromes consist a spectrum of deformities which include undergrowth, overgrowth, failure of formation, failure of differentiation, duplication and constriction band syndromes. This article concentrates on the more common lower limb deficiency syndromes and their orthopaedic management.

Hemimelia is a rare anomaly affecting the distal long bones of extremities, with an occurrence of 1–20 cases per million of live births depending on the affected bone. Hemimelia can be an isolated defect or be part of complex syndromes that affect extra skeletal structures. Prenatal detection by routine ultrasound imaging is difficult and yields low detection rates. The prenatal diagnosis of hemimelia should prompt a complete and detailed study of the fetal anatomy, since it can be associated with defects in other structures and systems, as the reported in this case. The prognosis depends upon the associated anomalies.

Tibial hemimelia is a relatively rare congenital preaxial longitudinal deficiency. The focus of this report is on Jones Type 4 (also called ankle diastasis). Treatment options range from amputation to tibiotalar arthrodesis with subsequent lengthening procedures. We present a case report of a patient with tibial hemimelia Jones Type 4 treated by ankle-sparing reconstruction with serial tibial- and fibular-lengthening procedures. To the best of our knowledge, this is the first report of ankle-sparing reconstruction followed until maturity.

Supplemental Digital Content is available in the text, Rationale: Tibial hemimelia is known as a rare congenital lower limb deficiency. It has been classified into different types based on Jones classification, and the traditional treatment of tibial hemimelia is amputation. Here we present a variant and unclassified case of tibial hemimelia, which was caused by osteomyelitis. And the lower limb with tibial hemimelia was salvaged by asymmetric limb lengthening. Patient concerns: 19-year-old girl had the shortened and curved left lower extremity with walking abnormalities. Diagnosis: The patient's deformity was caused by osteomyelitis of tibia occurred when she was 18 month old. The tibial shaft was absent, while the proximal and distal tibia was present but was hypoplastic with radiographic analysis. The fibula was hypertrophied and curved like the capital letter C. The leg length discrepancy (LLD), mostly coming from the left lower leg, was 22 cm. Interventions: We were able to salvage the limb successfully by 5 operations, including releasing soft tissue, fusing the proximal tibiofibular joint, fibular osteotomy, femur lengthening, and fibular lengthening. Outcomes: The whole treatment time for the patient was 3 years and 2 months, and she was followed up for 5 years afterward. The length of femur lengthening and fibula lengthening during the reconstruction were 7.8 cm and 11 cm, respectively. Most of the deformities were corrected, except that the left lower limb was still 2 cm shorter than the contralateral limb, and the 34 mm of mechanical axis deviation (MAD) of left lower limb remained. The reason why the patient's lower limbs were asymmetric was that the femur and fibular lengthening were performed within the affected limb only. Overall, the patient was very satisfied with her asymmetric limbs and its function after surgeries. Lessons: The LLD in this case mainly came from tibial hemimelia. However, the fibula was unable to be lengthened to 22 cm during the lower leg distraction process because of blood flow disturbance. We could only lengthen the femur to salvage the limb in this situation. Even though the patient still had a few residual deformities and a pair of asymmetric lower limbs, she was satisfied with the function and appearance of the reconstructed limb. Therefore, the lower limb with tibial hemimelia can be salvaged by asymmetric limb lengthening in special cases.

Femoral bifurcation and tibial hemimelia are rare anomalies described as a variant of Gollop-Wolfgang complex. This article presents a case of Gollop-Wolfgang complex without hand ectrodactyly. A 5-year old patient presented with bilateral tibial hemimelia and left femoral bifurcation. The patient's left limb lacked knee extensor mechanism, disarticulation was done. The right leg which had Jones type 2 tibia hemimelia was treated with tibiofibular synostosis. Currently patient is ambulant with prosthesis on the left limb and ankle foot orthosis on the right. In the absence of proximal tibial anlage, especially in patients with femoral bifurcation, the knee should be disarticulated. Tibiofibular synostosis is a good choice in the presence of a proximal tibial anlage with good quadriceps function.

Nineteen foot centralizations were performed in 14 patients with Jones type I and II tibial hemimelia. All feet showed equinovarus deformity and were treated by foot centralization by means of calcaneofibular arthrodesis. The average age of patients at the time of surgery was 1.3 years (range 0.4-3.8 years). The average follow-up postoperative period was 10.2 years (range 2.2-22.9). At the time of the final follow-up, four of the operated feet were plantigrade without secondary surgery. The remaining 15 limbs, however, required secondary surgery to treat postoperative early loss of correction and/or recurrent foot deformities such as equinus, varus and adduction, in addition to talipes calcaneal deformities, and fibular angular deformity at the fibular shortening osteotomy site. The deformities were treated either by repeat foot centralization, or fibular or calcaneal osteotomy. Careful observation for recurrence of the deformity is necessary until the distal fibular epiphysis closes, and the cartilagenous distal fibular end and calcaneus finally achieve ankyloses.

Tibial hemimelia is an uncommon longitudinal limb deficiency disorder involving the osseous and soft tissue components of the medial part of the leg. It is a syndrome of partial to complete absence of tibia at birth. Because of wide spectrum of presentation of the condition, many authors have tried to classify but none of the classification covers all the variations of tibial hemimelia. The case report presented here is a case of tibial hemimelia with bifurcated ankle having separate skin cover distal end of tibia fibula. This type of tibial hemimelia cannot be classified into any of the category; so far existing classification system is available. Further research is needed to develop a classification system which can include this type of tibial hemimelia.

Congenital absence of tibia is a rare anomaly, and may be total or partial, unilateral or bilateral. Total absence is more frequent than partial, unilateral absence occurs more often than bilateral, with right limb more commonly affected than the left. In partial defect, almost always the distal end of the bone is affected and, of the bilateral cases, there may be total absence on both sides, or total on one side and partial on the other. Males are slightly more commonly affected than the females. Though, the family history is usually negative for congenital abnormalities and other diseases, there is a considerable chance of occurrence of congenital defect of the tibia or of other abnormalities, in near or remote relatives. We report a case of newborn having bilateral tibial hemimelia type V (right) and IV (left).

Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1. We performed a collaborative international study to delineate phenotype, natural history, variability, and genotype-phenotype correlations in more detail.We gathered information on 103 cytogenetically or molecularly confirmed affected individuals. TRPS I was present in 85 individuals (22 missense mutations, 62 other mutations), TRPS II in 14, and in 5 it remained uncertain whether TRPS1 was partially or completely deleted.Main features defining the facial phenotype include fine and sparse hair, thick and broad eyebrows, especially the medial portion, a broad nasal ridge and tip, underdeveloped nasal alae, and a broad columella. The facial manifestations in patients with TRPS I and TRPS II do not show a significant difference. In the limbs the main findings are short hands and feet, hypermobility, and a tendency for isolated metacarpals and metatarsals to be shortened. Nails of fingers and toes are typically thin and dystrophic. The radiological hallmark are the cone-shaped epiphyses and in TRPS II multiple exostoses. Osteopenia is common in both, as is reduced linear growth, both prenatally and postnatally. Variability for all findings, also within a single family, can be marked.Morbidity mostly concerns joint problems, manifesting in increased or decreased mobility, pain and in a minority an increased fracture rate. The hips can be markedly affected at a (very) young age. Intellectual disability is uncommon in TRPS I and, if present, usually mild. In TRPS II intellectual disability is present in most but not all, and again typically mild to moderate in severity.Missense mutations are located exclusively in exon 6 and 7 of TRPS1. Other mutations are located anywhere in exons 4-7. Whole gene deletions are common but have variable breakpoints. Most of the phenotype in patients with TRPS II is explained by the deletion of TRPS1 and EXT1, but haploinsufficiency of RAD21 is also likely to contribute. Genotype-phenotype studies showed that mutations located in exon 6 may have somewhat more pronounced facial characteristics and more marked shortening of hands and feet compared to mutations located elsewhere in TRPS1, but numbers are too small to allow firm conclusions. (C) 2015 Elsevier Masson SAS. All rights reserved.

Congenital absence of tibia is a rare anomaly and may be total or partial, unilateral or bilateral. Total absence is more frequent than partial. Unilateral absence occurs more often than bilateral, with right limb more commonly affected than the left. In partial defect, almost always the distal end of the bone is affected. In the bilateral cases, there may be total absence on both sides, or total on one side and partial on the other. Males are slightly more commonly affected than the females. Though, the family history is usually negative for congenital abnormalities and other diseases, there is a considerable chance of occurrence of congenital defect of the tibia or of other abnormalities, in near or remote relatives. We report a case of newborn having unilateral tibial hemimelia type 3 with radial club hand and contracture band on the hand.

We reported the findings from three patients with Gollop-Wolfgang complex and demonstrated the results of five limb salvage treatments for this condition. All three femoral bifurcations were accompanied by ipsilateral complete tibial hemimelia. Two patients showed contralateral complete or partial tibial hemimelia, and one patient had hand ectrodactyly. The five limb salvage treatments included resection of the anteromedial bifurcated femur in three limbs, foot centralization in five limbs, tibiofibular fusion in one limb with partial tibial hemimelia, fibular transfer (Brown's procedure) in three limbs with complete tibial hemimelia, and callus distraction lengthening in one limb. The duration from the first operation to the final follow-up ranged from 3.5 to 5.4 years. None of the three knees treated by fibular transfer achieved a successful functional result, but all of the knees were ultimately able to withstand weight bearing. Early knee disarticulation and resection of the protruded bifurcated femur, followed by fitting of a modern prosthesis is likely to be the best treatment for patients with Gollop-Wolfgang syndrome. We note that limb salvage treatment is an alternative in patients who opt to retain their feet and refuse amputation.