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Background: Total knee arthroplasty (TKA) in patients who have skeletal dysplasia (SD) is a technically challenging surgery due to deformity, joint contracture, and associated comorbidities. Patients presenting with this condition have traditionally been treated with conservative measures, leading to poor outcomes. The aim of this study was to follow-up on patients who had SD following TKA, specifically with regards to clinical outcomes., Methods: A total of 31 knees (22 patients) with SD that had undergone TKA in our institution were included in our study. The mean follow-up from index surgery was 110.3 months (range: 20 to 291). The type of dysplasia, implant used, and clinical outcomes with patient-reported outcome measures are presented., Results: There were 8 patients (36.3%) who had a diagnosis of achondroplasia, followed by multiple epiphyseal dysplasia (31.8%) and spondyloepiphyseal dysplasia (22.7%). There were 14 men and 8 women who had a mean age of 51 years (range: 28 to 73). Custom implants were required in 12 cases (38.7%), custom jigs were used in 6 cases (19.4%), and robotic-assisted surgery was used in 2 (6.5%) TKAs. Hinged prostheses were used in 17 cases (54.8%), posterior-stabilized in 9 (29.0%), and cruciate-retaining implants in 5 (16.1%). There was 1 patient who sustained an intraoperative medial tibial plateau fracture treated with concomitant open reduction and internal fixation. There was 1 revision that occurred during the follow-up period with a patella resurfacing for continued anterior knee pain. Postoperatively, Oxford Knee Scores improved on average by 12.2 points. The 10-year and 20-year all-cause revision-free survival was 96.8, respectively., Conclusions: Despite the technical challenges and complexity associated with this unique patient cohort, we demonstrated excellent implant survivorship and clinical outcomes post-TKA with mid-term to long-term follow-up of more than 20 years. We recommend preoperative cross-sectional imaging for precise planning and implant templating with multidisciplinary team decision-making. Despite our results, functional outcomes remain inferior to primary arthroplasty within the general population, although we still recommend this treatment modality to appropriately counseled patients., Level of Evidence: III., (Crown Copyright © 2024. Published by Elsevier Inc. All rights reserved.)

Background: Congenital dislocation of the knee (CDK) may be idiopathic or associated with another condition, such as Larsen syndrome or arthrogryposis. Surgical reduction of type-3 dislocation may require quadricepsplasty (QP) or femoral diaphyseal shortening (FS). Because it is unknown which treatment is more effective, we evaluated long-term outcomes using patient-reported questionnaires and gait analysis, comparing results by surgery type and underlying diagnosis., Methods: Twelve patients (mean age, 19 mo) were treated surgically for CDK from 1985 to 2015 and studied 9 to 30 years postoperatively. Three participants had idiopathic CDK, 5 had Larsen syndrome, and 4 had arthrogryposis. Eleven knees underwent QP and 7 underwent FS. Participants were evaluated in our movement science laboratory and completed patient-reported outcome questionnaires. Data were compared with healthy, age-matched control values at the same visit., Results: Surgically treated knees had less flexion during swing ( P <0.01), less overall motion ( P <0.01), greater coronal instability ( P <0.04), and slower gait ( P <0.01) compared with controls. QP knees had more instability in midstance ( P =0.03) and less flexion during gait compared with FS knees, less sagittal power generation than controls ( P <0.01), and trended toward lower scores on Knee Injury and Osteoarthritis Outcome and Lysholm Knee Questionnaires than FS patients did. The idiopathic group had the gait most similar to that of controls, followed by the Larsen syndrome group and then the arthrogryposis group. The idiopathic group also had a better UCLA Activity Score ( P =0.03) than the arthrogryposis group did., Conclusions: Surgical treatment of type-3 CDK will not likely restore normal knee function, suggesting teratologic joint abnormality. In this small series, FS produced better gait mechanics and patient-reported outcomes compared with QP. Not surprisingly, patients with idiopathic CDK had better outcomes than those with a syndromic diagnosis, likely related to having only a single joint affected., Level of Evidence: Level III., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Case: A 32-year-old woman with bilateral Madelung deformity presented with severe pain and arthritis of the radiocarpal and distal radioulnar joints. At final follow-up, 17 months for the left and 12 months for the right wrist, she had excellent functional results with no pain. Range of motion was 30° of flexion and 30° of extension with full pronosupination., Conclusion: There is paucity in the literature regarding salvage procedures in adults with this deformity. We demonstrate treatment with distal ulna excision and an radioscapholunate arthrodesis. This procedure may be indicated in Madelung deformity and proximal radiocarpal and distal radioulnar joint arthritis., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/C401)., (Copyright © 2024 by The Journal of Bone and Joint Surgery, Incorporated.)

Tracheobronchopathia osteochondroplastica (TO) is an uncommon non-malignant tracheal ailment characterized by the existence of numerous bone and/or cartilage nodules in the submucosa of the trachea and bronchi. At present, there is a lack of standardized treatment recommendations for TO. This article presents two instances of severe tracheal stenosis caused by TO, which were effectively managed through the implementation of bronchoscopic stent placement and rigid bronchoscopy curettage, respectively. Both cases exhibited favorable outcomes, providing novel insights and references for the treatment of TO. Laryngoscope, 134:3093-3095, 2024., (© 2024 The American Laryngological, Rhinological and Otological Society, Inc.)

Competing Interests: Declaration of interests We declare no competing interests.

Spondyloepiphyseal dysplasia congenita (SEDC) is a type of short-limbed dwarfism characterized by platyspondylia, delayed metaphyseal ossification, and irregularly shaped bones. Anesthetic issues in patients with SEDC have reportedly included airway stenosis caused by laryngotracheal hypoplasia, ventilation difficulty due to facial hypoplasia, and intubation difficulty attributed to microgenia. Furthermore, atlantoaxial instability can lead to cervical dislocation due to excessive or violent manipulation of the head and neck. We present the case of a 5-year-old girl with SEDC scheduled for palatoplasty revision. Airway difficulties were anticipated because of microgenia and the cervical collar she wore for atlantoaxial instability. However, mask ventilation and video laryngoscopy proved relatively easy. The patient was placed in Trendelenburg position (approximately 10°) without head tilt for surgical access. A combination of formulas based on the patient's age and height was used to determine tracheal tube size. However, the 4.5-mm oral Ring, Adair, Elwyn (RAE) tube selected resulted in 1-lung intubation when the tube bend was fixed at the lip, requiring further depth adjustment. Successful anesthetic management of this patient with SEDC incorporated several factors, including an individualized airway management plan, use of a video laryngoscope, careful posturing to avoid excessive cervical strain, and appropriate tube sizing and positioning.

Case: We describe the surgical management of a girl with dwarfism and congenital spondyloepiphyseal dysplasia, who presented in adolescence with coxa vara and bilateral pseudarthrosis between the femoral neck and the diaphysis, with asymmetric distal migration at both sites and leg length discrepancy. The patient at 16 years underwent valgus osteotomy in situ and femoral neck fixation in the left hip. The right hip was operated 19 months later., Conclusion: Hip dysplasia is common in spondyloepiphyseal dysplasia, but a debilitating nontraumatic bilateral pseudarthrosis at the base of the femoral neck has not been previously reported. Valgus corrective osteotomies of the femur in situ led to union and allowed the patient to walk., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/C319)., (Copyright © 2024 by The Journal of Bone and Joint Surgery, Incorporated.)

Spondylometaphyseal dysplasia (SMD) is a rare genetic disorder affecting skeletal growth and development presenting anesthesiologists with many perioperative challenges. We present a case of a patient found to have multilevel tracheal stenosis due to twisting and folding of his trachea. This was discovered on imaging during a research review of SMD cases at our institution. Structural and functional abnormalities of the trachea have not been reported in SMD. This is the first description of a patient with SMD with severe multilevel tracheal disease requiring tracheal reconstructive surgery., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 International Anesthesia Research Society.)

Background: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first described in 2018. This syndrome starts with pre- and postnatal developmental delay, and gradually presents with variable facial dysmorphisms, a short stature, amelogenesis imperfecta, and progressive skeletal dysplasia affecting the limbs, joints, hands, feet, and spine., Case Presentation: We identified a homozygous novel nonsense mutation in exon 1 of SLC10A7 (NM&#95;001300842.2: c.100G > T / p.Gly34*) segregating with the typical disease phenotype in a Han Chinese family. We reviewed the 12-year surgical treatment history with seven interventions on spine., Conclusion: To date, only 12 cases of the SLC10A7 mutation have been reported, mainly from consanguineous families. Our patient showed a relatively severe and broad clinical phenotype compared with previously reported cases. In this patient, annual check-ups and timely surgeries led to a good outcome., (© 2023. The Author(s).)

Purpose: Osteochondromyxomas (OMX) are rare congenital bone tumors that have only been described in the context of Carney complex syndrome (CNC). Data on OMX as a separate entity and in association with other disorders remain limited, making both diagnosis and treatment difficult., Methods: A case report of a 17-year-old female diagnosed with sellar OMX is presented in the setting of spondyloepiphyseal dysplasia (SED). We discuss the radiographic and histopathological interpretations in addition to reviewing the current literature on OMX., Results: A successful gross total resection of the tumor was achieved via an endonasal endoscopic transsphenoidal approach. A diagnosis was established radiographically and pathologically., Conclusion: The diagnosis and treatment of OMX are best achieved via tissue biopsy. Following confirmed osteochondromyxoma cases long term for recurrence and outcomes will be essential in understanding its natural tumor history and in establishing standard treatments., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

We report a case of an 11-year-old girl with bilateral severe Madelung deformity who underwent radial osteotomy with callus distraction. The distal radial articulation was corrected at surgery, and a unilateral fixator was subsequently used for callus distraction. No postoperative complication was noted. The patient did not need any additional surgeries for correction of the deformity. Forty-three months after surgery, the patient had a nearly full range of motion without any pain. Forearm deformity was not noticeable, except for surgical scar on both wrists.

Introduction:  Jeune's syndrome, or asphyxiating thoracic dystrophy (ATD), is a rare autosomal recessive disorder characterized by skeletal dysplasia. Ribs are typically short and horizontal resulting-in lethal variant-in severe lung hypoplasia, progressive respiratory failure, and death. Lateral thoracic expansion (LTE) consists in staggered bilateral ribs osteotomy leading to chest expansion and lung development. Studies on LTE in ATD patients report encouraging data, but the rarity of ATD implies the lack of a standardized surgical path. The aim of this report is to present our experience with LTE, the technical modification we adopted, and patients' clinical outcome., Materials and Methods:  We retrospectively reviewed data of 11 LTE performed in 7 ATD patients with lethal variant. Information regarding pre- and postoperative clinical conditions and surgical details was collected. We adopted a single-stage or a two-stage approach based on patient clinical condition. Computed tomography (CT) scan was performed before and after surgery and lung volume was calculated., Results:  Five patients are alive, while two died in intensive care unit for other than respiratory cause (sepsis). Most patients experienced clinical improvement in terms of decreased respiratory infections rate, need for ventilation, and improved exercise tolerance. Postoperative CT scan demonstrated a median lung volume increase of 88%., Conclusion:  Mortality in ADT patients is high. However, LTE is a feasible and safe surgical approach, which could improve clinical conditions and survival rate. Survived patients showed postoperatively less oxygen requirement and improved clinical conditions., Competing Interests: None declared., (Thieme. All rights reserved.)

Background: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare, hereditary, X-linked skeletal disorder. To our knowledge, there are few reports about orthopedic surgery in these patients. This is the first report on patients with SEDT undergoing spinal and fracture reduction surgery., Case Presentation: A 31-year-old male patient who had been misdiagnosed with juvenile idiopathic arthritis (JIA) for 20 years and who had been treated with femoral shaft internal fixation for lower extremity fracture caused by minor trauma presented at hospital with stiffness and weakness in the lower extremities for the past two years. Radiographs showed bony dysplastic features of flattened vertebral bodies, Scheuermann-like changes in the spine, and osteoarthritis-like changes in the joints. Laboratory examination, including routine blood tests and rheumatism-related indicators showed negative results. Considering the history, radiology, and genetic findings, a diagnosis of spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) was considered. Further neurological examination indicated that severe spinal cord compression was an important reason for the patient's inability to walk. Laminectomy, spinal canal decompression, internal fixation and fusion were performed. Clinical outcome was satisfactory at one-year follow-up. The lower-limb fatigue was relieved, the patient could walk independently, and his examination showed osseous fusion. The English database was searched and the literature was reviewed for the relevant keywords of "SEDT-PA"., Conclusions: Progress has been made in genetic research on SEDT; early diagnosis is particularly important, but the clinical diagnosis and treatment plans are still evaluated on a case-by-case basis. The best treatment for SEDT is to identify patients with progressive neurological and joint-mobility impairments and perform appropriate surgical intervention. Surgical intervention can improve neurological function and quality of life. However, surgery, as palliative care, does not alter the progression of the disease., (© 2022. The Author(s).)

Hip containment surgeries in multiple epiphyseal and spondyloepiphyseal dysplasia (MED/SED) patients aim to improve the mechanical environment of the hip joint. The purpose of this study was to determine if surgical intervention to improve femoral head coverage improved radiographic and clinical outcomes. A retrospective study identified patients with MED/SED seen in clinic between May 2000 and September 2017, with a minimum of 2-year follow-up. Patient charts/radiographs were reviewed for radiographic hip measurements, pain, and gait. Sixty-nine hips in 35 patients were identified. Forty-four hips were treated nonoperatively and 25 were treated surgically. The mean age at diagnosis was 6.2 years. The mean follow-up was 7.7 years for the surgical group and 7.1 years for the nonsurgical group. The mean postoperative follow-up was 5.4 years. Acetabular index decreased from initial to final visit by 9.0° in the surgical group and 1.6° in the nonsurgical group. Tonnis angle decreased by 13.5° in the surgical group and 1.5° in the nonsurgical group. Center edge angle increased by 19.0° in the surgical group and 7.1° in the nonsurgical group. Hips in the surgical group were 6.1 times more likely to experience an improvement in pain compared with hips in the nonsurgical group. Gait at the final follow-up was similar among the two groups. In this study cohort, containment surgery provided increased femoral head coverage; however, there was equal femoral head deformation despite intervention. Hips treated surgically were more likely to experience an improvement in pain; however, gait alterations did not improve., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

We present a case of spondyloepiphyseal dysplasia congenita (SEDC), a rare autosomal dominant genetic disorder that results in short stature and skeletal anomalies. Children with SEDC have disproportionate short-trunked short stature, platyspondyly, coxa vara, and epiphyseal involvement. Those with coxa vara can develop osteoarthritis of the hip early and a valgus hip osteotomy is recommended to preserve hip function and delay progression to osteoarthritis. Surgery is difficult due to the three-dimensional deformity, unossified femoral head, and small patient size. In this case, a patient-specific surgical plan and implant sizing was developed using a composite 3D reconstruction from computed tomography (CT) and magnetic resonance imaging (MRI). The complementary use of both modalities allowed for a complete visualization of the patient's dysplastic femoral head & neck anatomy., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Case: The aim of the article is to report on a case of a teenager affected by Madelung deformity treated with a double osteotomy, planned by means of a 3D model. Using a custom-made cutting guide, the radial osteotomy was performed, and after the reorientation, a shortening ulnar osteotomy completed the procedure. Postoperative clinical assessment showed a normal alignment of the ulna with increased range of motion wrist motion., Conclusions: Using a 3D model when planning a multidirectional correction of a Madelung deformity may be advantageous to achieve a more accurate and precise realignment of the carpus and distal radioulnar joint., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/B835)., (Copyright © 2022 by The Journal of Bone and Joint Surgery, Incorporated.)

Tracheobronchopathia osteochondro-plastica (TPO) is a rare disorder of yet unknown etiology. The common clinical features include cough with expectoration, breathing difficulty, hemoptysis, and recurrent airway infections, which can lead to a misdiagnosis as another chronic respiratory illness in a large number of cases due to the rare nature of TPO. Here we present a 25-year-old lady who was misdiagnosed as bronchial asthma for many years, and was found to have TPO after difficulty in intubation for administering general anesthesia prior to a surgical procedure.

Abstract: Otopalatodigital syndrome spectrum disorders are caused by Filamin A (FLNA) gene mutations. Otopalatodigital syndrome spectrum disorders are a group of rare congenital skeletal dysplasia, with specific craniomaxillofacial features including otopalatodigital syndrome type 1 and type 2, Melnick-Needles syndrome, frontometaphyseal dysplasia, terminal osseous dysplasia with pigmentary defects. The authors describe cases of a young girl with Melnick-Needles syndrome and a young boy with frontometaphyseal dysplasia treated in the Oral and Maxillofacial Surgery Department. Both patients had FLNA gene mutation confirmed with molecular genetic analysis. The authors proposed a 4 step treatment of the malformations with good outcomes both aesthetically and functionally, without complication., Competing Interests: The authors report no conflicts of interest., (Copyright © 2021 by Mutaz B. Habal, MD.)

Aims: Chondrosarcoma is the second most common primary sarcoma of bone: conventional chondrosarcoma accounts for 85% of all cases. Conventional chondrosarcoma may be central or peripheral. Most studies group central and peripheral chondrosarcomas together, although there is growing evidence that their clinical behaviour and prognosis differ. The aims of this study were to analyze any differences in characteristics between central and peripheral chondrosarcomas and to investigate the incidence and role of different syndromes., Methods: Data from two international tertiary referral sarcoma centres between January 1995 and December 2018 were retrospectively reviewed. The study population consisted of 714 patients with surgically treated conventional chondrosarcoma of the pelvis and limbs., Results: In patients with Ollier's disease and Mafucci's syndrome, 12/20 (60%) and 2/5 (60%) of malignancies, respectively, were in the limbs, most frequently in the proximal humerus, proximal tibia, and in the hands and feet. In patients with hereditary multiple exostosis (HME), 20/29 (69.0%) of chondrosarcomas were in the pelvis and scapula, specifically in the ilium in 13/29 (44.8%) and the scapula in 3/29 (10.3%). In central chondrosarcoma, survival of patients with Ollier's disease and non-syndromic patients was the same (p = 0.805). In peripheral chondrosarcoma, survival among HME patients was similar (p = 0.676) in patients with tumours of the pelvis and limbs., Conclusion: Both central and peripheral chondrosarcoma have specific characteristics. HME is frequently seen in patients with a peripheral chondrosarcoma, in whom tumours are commonly located in the ilium and scapula. The incidence of Ollier's disease is uncommon in patients with a central chondrosarcoma. Disease-specific survival is equal in different subtypes after adjustment for histological grade. The local recurrence-free survival is the same for different locations and subtypes after adjustment for surgical margin. Cite this article: Bone Joint J  2021;103-B(5):984-990.

Levels of Evidence: Level V: Case report.

Tracheobronchopathia Osteochondroplastica is a benign condition characterized by osseous and cartilaginous submucosal growths of the tracheobronchial tree. This is a case report of an individual that was to undergo elective surgery using general anesthesia with endotracheal tube intubation. However, the anesthesiologist encountered a large osseous mass of the precricoid region and could not be intubated. This case report describes the technique for removal of the obstructing lesion using a Sonopet ultrasonic aspirator. Laryngoscope, 131:E911-E913, 2021., (© 2020 American Laryngological, Rhinological and Otological Society Inc, "The Triological Society" and American Laryngological Association (ALA).)

Background: Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are congenital skeletal disorders characterized by irregular epiphyses, mild or severe short stature and early-onset osteoarthritis which frequently affect the hips. The current study evaluates the long-term results of the Chiari osteotomy in MED and PSACH patients., Methods: Twenty patients (14 MED and 6 PSACH) were retrospectively included. Clinical assessment used the Postel Merle d'Aubigné (PMA) score and the Hip disability and Osteoarthritis Outcome Score (HOOS). Risser index, Sharp angle, acetabular depth index, center-edge angle, Tönnis angle, and femoral head coverage were measured on the preoperative radiographs and at last follow-up. The Treble index, which identifies the hip at risk in MED patients, was also determined. Stulberg classification (grades I to V) was used to evaluate the risk of osteoarthritis in the mature hips.Statistical analyses determined differences between preoperative and postoperative data. The Kaplan Meier method was used to calculate the survival rate of the operated hips using total hip arthroplasty as the endpoint., Results: Thirty-three hips which underwent a Chiari osteotomy were reviewed. The average follow-up was 20.1 years. The PMA scores were significantly better at last follow-up than preoperatively. All radiographic parameters significantly improved. Moreover, the Sharp angle, center-edge angle, and femoral head coverage improved to a normal value at hip maturity. All of the operated hips had a Treble index of type I. At hip maturity, a majority of hip were aspherical congruent (Stulberg grades of III and IV). The survival rate of the operated hips was 80.7% at 24 years postoperative., Conclusions: The Chiari osteotomy is a satisfying solution for severe symptomatic hip lesions in MED and PSACH patients. At long-term follow-up, this procedure lessens pain and improves hip function, which delays total hip arthroplasty indication., Level of Evidence: Level IV., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

BACKGROUND Tracheobronchopathia osteochondroplastica (TO) is a rare disorder characterized by cartilaginous or ossified submucosal nodules of unknown etiology that project into the tracheobronchial lumen. TO is often accompanied by endotracheal stenosis from cartilage proliferation and is often detected by difficult endotracheal intubation incidence. CASE REPORT Here we report the case of a patient (67-year-old man) with TO scheduled to undergo robot-assisted total prostatectomy for prostate cancer. The tracheal lumen was especially narrow at an area 1 cm below the glottis, with the smallest lumen diameter being 9 mm. After rapid induction, the bronchoscope passed through the stenosed region, and a 6.5-mm spiral endotracheal tube (ETT) was inserted with bronchoscopic assistance. However, because of resistance, the spiral ETT could not pass through the stenosed area. After changing to a 6.5-mm normal ETT, intubation was successfully performed with gentle rotation. Owing to the rotation, the tip entered and gained access to the gap between nodules. With use of a bronchoscope, we confirmed that the tip of the ETT was advanced 10 cm from the glottis, where the site of maximum stenosis was not covered by the tube cuff, and where the tip did not cross the bifurcation. After surgery, no bleeding or edema was found on bronchoscopy. CONCLUSIONS In patients with TO, it is important to assess the airway condition and prepare for difficult intubation. In this case, tracheal intubation was performed with rotation using a bronchoscope and normal ETT.

Tracheobronchopathia osteochondroplastica (TO) is a rare disease that may cause unexpected difficult intubation. There is no available consensus on the management of difficult intubation that is associated with TO. A 45-year-old woman was scheduled for modified radical mastoidectomy, canaloplasty, and tympanoplasty under general anesthesia. We encountered significant resistance during tracheal intubation, although the laryngeal view was normal with the video laryngoscope. A fiberoptic bronchoscope was then used to facilitate intubation, and we noted that the trachea was obviously narrowed due to cartilaginous ring hypertrophy. The tracheal tube was fully lubricated with tetracaine gel, and smoothly inserted into the trachea. After the operation, bronchoscopy and a computed tomography (CT) scan were performed to confirm the diagnosis of TO. Fiberoptic bronchoscopy-assisted tracheal intubation is safe and effective choice for the patients in whom subglottic intubation is difficult. CT scan and bronchoscopy might be helpful for preoperative airway assessment. Identifying patients with TO is important to avoid unexpected tracheal intubation impediment. Assessment of the subglottic airway should also be taken seriously.

Case: We present a long-term follow-up on a woman with otospondylomegaepiphyseal dysplasia (OSMED). At the age of 46 years, she is one of the oldest patients with the syndrome in the literature to date. We focus on the musculoskeletal anatomy and orthopaedic interventions over her lifetime., Conclusion: OSMED is a very rare syndrome. Arthritis and joint pains presented in her early adolescence and progressed to the point of requiring joint replacements by her 20s. Early intervention and monitoring improved the quality of life for this patient., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/B278)., (Copyright © 2020 by The Journal of Bone and Joint Surgery, Incorporated.)

Case presentation of 7 years follow up of female patient with wrist arthritis caused by Madelung deformity. As causal treatment remains unknown, the pain reduction by means of selective wrist denervation is one possible option., Competing Interests: The authors declare that they have no conflict of interest./Die Autoren geben an, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)

Background: Skeletal dysplasias are a heterogeneous group of >400 genetic disorders characterized by abnormal bone growth. Many individuals experience joint pain and limitation, coming to require joint replacement much earlier than the average-statured population. In addition, prosthesis survival rate is less in the dysplastic population. The purpose of this study is to identify risk factors for surgery and provide recommendations to improve surgical outcomes., Methods: This a retrospective review of 29 individuals with a skeletal dysplasia who had 64 joint replacements between April 1985 and January 2019 at a single institution. We collected demographics, physical examination, medical history, imaging studies, surgical indication, and complications., Results: Spondyloepiphyseal dysplasia was the most common skeletal dysplasia (7), followed by pseudoachondroplasia (4) and multiple epiphyseal dysplasia (4). Average age of the cohort was 40.6 years (range 14-64). Hip arthroplasty (34) was the most commonly performed surgery. The majority of arthroplasties (75%) required custom components. Complication rate was 37.3%, most commonly pulmonary embolism (3) and pneumonia (3). Most complications (81.8%) occurred in individuals with either a pre-existing cardiopulmonary comorbidity or lumbar/sacral deformity. Body mass index did not correlate with complication severity (R = -0.042, P = .752) or rate (R = 0.006, P = .963)., Conclusion: Surgical complications are highest in patients with pre-existing cardiopulmonary conditions. Body mass index does not predict complications in this cohort. Preoperative evaluations for individuals with skeletal dysplasias should include comprehensive work-up of spine issues and extraskeletal systems that present an operative risk. Intraoperative protocol should include special consideration for placement on the table, airway maintenance, and spinal cord monitoring in select cases., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Background: Madelung deformity arises from a partial distal radial growth disturbance in combination with an abnormal hypertrophic ligament spanning the volar radius and carpus, termed, the Vickers ligament. The purpose of this study is to report long-term clinical and radiographic outcomes following Vickers ligament release and distal radial physiolysis in a population of skeletally immature patients with symptomatic Madelung deformity., Methods: Medical records were retrospectively reviewed of patients with Madelung deformity surgically treated between 1994 and 2005. All eligible patients who underwent a Vickers ligament release and distal radial physiolysis were contacted and invited to return to the clinic for follow-up., Results: Six patients (8 wrists) with Madelung deformity underwent Vickers ligament release and distal radial physiolysis. All were white females with a mean age at initial presentation of 11.4 years (10 to 12.8 y). Mean age at the time of initial surgery was 12.0 years (10.0 to 14.5 y). The median follow-up time was 10.6 years (5.8 to 21.9 y) and the average age at last follow-up was 23.1 years (17.5 to 32.2 y). Pain alone or in combination with concerns for deformity was the chief complaint in 6 of 8 of the wrists. At 1 year of clinical follow-up, 7 of 8 wrists were reported to be pain-free, and 6 of the 8 were noted to be completely pain-free at last follow-up. Motion in flexion, extension, pronation, supination, radial, or ulnar deviation was similar between the preoperative status and long-term follow-up. The average preoperative ulnar tilt was 35.1 degrees (SD: 8.5 degrees), average preoperative lunate subsidence was 1.9 degrees (SD: 1.8 degrees), and average preoperative palmar carpal displacement was 21.9 degrees (SD: 2.9 degrees). At the final follow-up, there was a large progression in lunate subsidence, but minimal change in ulnar tilt and palmar carpal displacement. At last clinical follow-up, 2 of the 6 patients had undergone a subsequent procedure including 1 radial dome osteotomy and 1 ulnar shortening osteotomy., Conclusion: In the skeletally immature patient population with Madelung deformity with growth potential remaining, distal radial physiolysis and Vickers ligament release is associated with relief of pain, preservation of motion, and, a reasonable rate of reoperation., Type of Study: This was a therapeutic study., Level of Evidence: Level II.

Frank Ter Haar syndrome (FTHS) is a rare autosomal recessive disorder with characteristic skeletal, cardiac, ocular, and craniofacial abnormalities. We report a sibling pair presenting with clinical features typical of FTHS, born to consanguineous parents, with a novel mutation in the SH3PXD2B gene on chromosome 5q35.1 that results in premature truncation of the protein encoded. The children presented with brachycephaly, multiple joint contractures, cardiac valvular defects, bilateral megalocornea, and congenital glaucoma. Trabeculotomy combined with trabeculectomy was performed in both siblings to control intraocular pressure. The characteristic clinical features with the underlying genetic defects confirmed the diagnosis of FTHS. Early diagnosis and treatment of congenital glaucoma preserved vision in the children.

Background: The concept of organ transplantation as treatment for complex genetic conditions, including Wolcott-Rallison syndrome (WRS), continues to show promise. Liver transplantation is essential for survival of patients with WRS, and pancreas transplantation cures their type I diabetes mellitus., Methods: The recipient, a 3-year-old girl weighing 14 kg at the time of transplantation, suffered from major complications of WRS, including repetitive liver failure episodes and poorly controlled diabetes. The patient underwent a nonacute, combined, simultaneous liver and pancreas transplantation from a pediatric donor without using the en bloc technique., Results: Well-preserved graft functions at 2-year follow-up with normal liver and pancreas function., Conclusions: This is the first case report of simultaneous liver and pancreas transplantation as treatment of WRS in a small child in Europe. Two-year follow-up demonstrates that organ transplantation can halt life-threating recurrent liver failure episodes and cure type 1 diabetes.

Background: Madelung deformity is a congenital wrist condition characterized by volar subluxation of the wrist caused by premature growth arrest of the distal radius. Progressive symptoms can necessitate surgical intervention, yet optimal treatment strategy remains unknown. The aim of this study is to determine treatment options, surgical indications, and operative outcomes for Madelung deformity. Methods: This study adhered to the Meta-Analyses of Observational Studies in Epidemiology (MOOSE) guidelines. A comprehensive systematic review was performed to identify all studies describing surgical interventions for Madelung deformity. All studies were evaluated by level of evidence and a self-developed quality assessment tool. Results: Twenty-five studies met inclusion criteria; all case series with type IV level of evidence. Studies assessed pain, range of motion, aesthetic deformity, and grip strength. The primary indication for surgery was the presence of wrist pain. Various surgical procedures exist and could be categorized as radial lengthening, ulnar shortening, or a combination of both. All studies report postoperative pain reduction and most studies report an improved range of motion. Conclusions: A variety of surgical procedures reportedly have satisfactory outcomes. However, outcomes are reported in an inconsistent manner, prohibiting pooling of studies and comparisons of surgical procedures and their outcomes. We propose several methodological changes for implementation in future studies, increasing the quality of evidence to compensate for small patient numbers.

Craniodiaphysial dysplasia is an extremely rare genetic disorder characterized by a severe form of bone dysplasia and a distinctive facial dysmorphisms, as a result of a massive generalized hyperostosis and sclerosis, primarily involving the facial bones and the skull. We present a 10-years-old girl referred to an otolaryngology consultation with complaints of progressive hearing loss. The clinical aspects, pathogenesis and management of this disease are also review in this paper. Furthermore, we describe the first case of craniodiaphysial dysplasia rehabilitated with Bone-Anchored Hearing Aid, despite the concerns inherent to the involvement of the skull bone that characterizes the disease., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Background: Coxa vara has been frequently reported in spondyloepiphyseal dysplasia congenita (SEDC), and proximal femoral osteotomy has been described as a useful treatment. The aim of this study was to discuss the clinical, radiographic, and gait outcomes after valgus extension osteotomy of the proximal femur. Changes of lumbar lordosis, associated with coxa vara correction, are reported as well as the outcome differences between different ages., Methods: Records of children with SEDC, who were followed at our institution between 2004 and 2014, were reviewed; and children had hip surgery were identified. Hip pain and passive range of motion, radiographic neck shaft angle (NSA), and Hilgenreiner trochanteric (H-T) angle, sagittal spinopelvic parameters, and gait data were recorded. Preoperative and last follow-up data were compared. Outcomes were also compared between 3 age groups., Results: Of the 79 children with SEDC, 26 children (12 boys and 14 girls) had hip osteotomy in 48 hips. Mean age at surgery was 9.6 years and the mean follow-up was 5 years. Preoperative hip pain was noted in 30 hips. At the last follow-up, 3 hips were painful at the extreme range of motion. Passive range of motion, NSA, and H-T improved postoperatively. Although NSA was maintained over the follow-up, H-T deterioration was noted. Spinopelvic measurements changed significantly and gait data remained stable except pelvic tilt that reduced significantly after surgery. The changes of radiographic measurements in each age group were similar to the total group of patients., Conclusions: In children with SEDC, surgical correction of coxa vara, by proximal femoral valgus osteotomy, is an effective treatment that improves hip pain and range of motion in addition to the radiographic alignment of the proximal femur and the sagittal spinopelvic alignment. Children are expected to maintain their level of function after surgery and to have good results over the midterm regardless of their age at surgery., Level of Evidence: Level IV-therapeutic study.

Rationale: Spondylometaphyseal dysplasia (SMD) is an extremely rare disorder of irregular development of spine and metaphyses of long tubular bones. Mutations in the collagen type X alpha 1 gene were found to underlie this condition. Previously reported mutations in the N-terminal non-collagenous NC2 domain and C-terminal non-collagenous NC1 domain failed to be identified in some specific patients., Patient Concerns: A 23-year-old male was referred to us for fixed, angular thoracolumbar kyphosis with semi-paralysis, numbness, and tremor on his left lower limb. Marked hypoplasia of thoracolumbar vertebra and spinal canal stenosis were observed on radiology., Diagnoses: He was diagnosed with spondylometaphyseal dysplasia (Type A4). Gene sequencing was performed using normalized targeted regions sequencing (TRS). A novel heterozygous missense variant p.Gly139Cys in the triple-helical region. Multiple lines of evidence imply this mutation to be pathogenic., Interventions: Posterior instrumentation and vertebral column resection were given to correct his fixed, angular thoracolumbar kyphosis., Outcomes: The correction was satisfying and the functional outcomes were good., Lessons Subsections as per Style: The findings corroborated that type X collagen plays a critical role in the formation of the human spine as well as the long bones, and further expanded the range of type X collagenopathy. Surgical procedure could be considered for patients with severe malformation and neurological impairments.

Competing Interests: Der Autor gibt an, dass kein Interessenkonflikt besteht.

Design: Retrospective review., Objective: To describe the presentation and progression, and compare treatments of severe thoracic kyphosis in a cohort of patients with metatropic dysplasia., Summary of Background Data: Metatropic dysplasia is a rare skeletal dysplasia characterized by several abnormalities, including severe platyspondyly and vertebral wedging. These lead to marked kyphoscoliosis that begins in the first year of life and progresses to a stiff, short thorax and restrictive lung disease. There is no study that specifically addresses treatment of kyphosis in this cohort., Methods: A 12-year retrospective chart review at a single institution was performed to identify metatropic dysplasia patients. Comparison between four main treatment groups-observation, bracing, anterior release and growing construct, and anterior release and final fusion-were made radiographically with regard to thoracolumbar, T2-T12, and major Cobb kyphosis; sagittal vertical alignment; and C7-kyphosis apex distance, taken at presentation, pre- and posttreatment, and final follow-up., Results: Twenty patients with metatropic dysplasia presented at an average age of 3.1 years with a kyphosis of 75°, and were followed an average of 8.5 years. Those treated surgically presented with an average of 86.7° kyphosis, 88 mm C7-kyphosis apex distance, and 50 mm positive sagittal vertical alignment (SVA). Postsurgical reduction of kyphosis averaged 43° with less than 4° loss of correction in all groups except the constructs involving rib fixation. Recent use of staged thoracoscopic anterior soft tissue release, halo traction, and growing rod construct has produced the most dramatic results with average kyphosis correction of 71° and evidence of anterior bony remodeling. In those treated with observation, kyphosis progressed less than a quarter degree per year., Conclusions: Thoracic kyphosis in metatropic dysplasia does not uniformly progress in all patients and therefore can be initially observed. In those who progress, several surgical options exist including growth-friendly constructs that have demonstrated success without a higher rate of complications., Level of Evidence: Level IV., (Copyright © 2018 Scoliosis Research Society. Published by Elsevier Inc. All rights reserved.)

Objective: Sylvian subpial hematoma (SSH) is occasionally observed in aneurysm subarachnoid hemorrhage (aSAH) when accompanied with the thick clot in the inferior limiting sulcus (ILS). We aimed to determine whether the thickness of the clot in the ILS (TCILS) was an indicator of SSH., Methods: Data from 150 consecutive patients with aSAH were retrospectively analyzed. The relationship between TCILS on axial computed tomography (CT) image and intraoperatively confirmed SSH was reviewed. In patients without SSH, the average of the clot thickness in the bilateral ILS was used. The primary outcome was SSH., Results: The median TCILS of the SSH group (n = 18, 12%) was larger than that of the non-SSH group (n = 132, 88%) (21 vs. 2.1 mm, respectively; P < 0.001). The intraclass correlation coefficients for clot thickness in the right and left ILS between 2 observers were 0.97 (P < 0.001) and 0.85 (P < 0.001). The TCILS threshold of ≥6.0 mm was associated with SSH, with a sensitivity of 89% and specificity of 99%. The unadjusted and adjusted odds ratios of the SSH of clot thickness in the affected ILS ≥6 mm relative to clot thickness in the affected ILS <6 mm were 263 (95% confidence interval [CI], 46-5063) and 137 (95% CI, 19-3029), respectively., Conclusions: The clot thickness in the ILS on CT image was easily measured and could be a marker of SSH. SSH assessment could be useful in helping us predict the clinical course in patients with aSAH., (Copyright © 2019 Elsevier Inc. All rights reserved.)

The prevalence of os trigonum and osteochondral lesions of talus (OCLT) have been presented in different prevalences among different groups in the literature for the patients with ankle impingement syndrome. Our main objective in the study was to determine the possible relationship between the impingement syndrome and the prevalence of os trigonum and OCLT in specific groups. The presence of anterior ankle impingement syndrome (AAIS), posterior ankle impingement syndrome (PAIS), os trigonum, OCLT, and the location of OCLT were evaluated in a blinded manner on magnetic resonance imaging from patients clinically considered to be diagnosed with ankle impingement syndrome from January 2014 to July 2017. The patients were separated into specific groups according to the confirmation of their clinical diagnosis of ankle impingement syndrome on magnetic resonance imaging . A total of 333 patients were included. The prevalence of os trigonum was found to be 1.3% in patients with PAIS(-) AAIS(+), 7.7% in patients with PAIS(-) AAIS(-), 63.3% in patients with PAIS(+) AAIS(-), and 81.1% in patients with PAIS(+) AAIS(+) (p < .001). The prevalence of OCLT was found to be 41.3% in patients with PAIS(-) AAIS(+), 23.1% in patients with PAIS(-) AAIS(-), 18.3% in patients with PAIS(+) AAIS(-), and 27% in patients with PAIS(+) AAIS(+) (p= .005). Our study showed that, for patients with isolated PAIS and AAIS combined with PAIS, the prevalence of os trigonum was 63.3% and 81.1%, respectively, which is more common than previously reported. For patients with isolated AAIS and PAIS, the prevalence of OCLT was 41.3% and 18.3%, respectively. Of the OCLTs combined with ankle impingement syndromes, 87.1% were medially located., (Copyright © 2018 the American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: Spondyloepiphyseal dysplasia (SED) is rare genetic condition which leads to skeletal and joint deformities that can predispose patients to degenerative joint disease. There are limited reports on the results of total hip arthroplasty (THA) in this patient population. The purpose of this study is to review clinical and radiographic outcomes of THA performed in patients with SED at one institution., Methods: Among 43,917 patients undergoing primary THA from 1970 to 2015, we identified 50 THAs performed in 29 patients with SED; 21 patients underwent bilateral THA (none simultaneous). There were 16 females and 13 males; mean age, body mass index, and height were 39 years, 28.7 kg/m 2 , and 145 cm, respectively. All patients were able to ambulate prior to the THA. Mean follow-up was 11 years (range 2-38)., Results: Mean implant survival for primary THA in SED patients at the 5, 10, and 20-year time points was 96%, 85%, and 55%, respectively. Thirteen patients required revision THA, most commonly for polyethylene wear (n = 6) and aseptic loosening (n = 5), and 4 additional patients underwent nonrevision reoperations. Prior to surgery, 90% of patients had severe or moderate pain, which was reduced to 8% of patients postoperatively (P < .001). Mean Harris Hip Score improved from 47 to 87 (P < .001). Prior to surgery, 64% of patients required gait aids, which reduced to 34% postoperatively (P < .001)., Conclusion: THA provided significant pain reduction and improvement in function, with a majority of patients ambulating independently following the procedure. There was a high incidence of complications following THA in patients with SED, most commonly secondary to polyethylene wear and osteolysis from conventional polyethylene and historical implants., Level of Evidence: Level IV, Therapy., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Purpose: To evaluate the surgical outcomes in a series of Madelung wrists treated with a Vicker ligament release at a young age. We hypothesize that early treatment of Madelung deformity with Vicker ligament release is safe and may minimize progression of deformity., Methods: A retrospective review was performed at a single large pediatric institution from 2013 to 2016 of patients with a diagnosis of Madelung deformity treated with Vicker ligament release and radial physiolysis. Exclusion criteria included patients who were skeletally mature, who underwent osteotomy procedures, or who had incomplete follow-up. Patient demographics were collected, concomitant surgeries were recorded, and outcomes including range of motion and pain were documented. Measurements of standard anteroposterior and lateral radiographs were calculated before and after surgery to monitor radiographic deformity and progression., Results: Six girls with bilateral Madelung deformity who underwent bilateral Vicker ligament resection and radial physiolysis (12 total wrists) were included. The average age at presentation was 7.5 years (range, 7-9 years), with an average follow-up of 30 months. Reasons for presentation included sports injuries (2), ulnar-sided wrist pain (2), and mild deformity (2). Additional radial and ulnar epiphysiodeses were performed in 2 wrists each. There were no intraoperative complications. Although pain resolved within the first month after surgery for all patients, 2 patients had intermittent unilateral ulnar-sided wrist pain at final follow-up. All patients returned to their presurgery activities. There was no loss of range of motion, and 4 wrists with preoperative supination deficits improved by an average of 17°. Radiographic measurements demonstrated improvement in the radial physeal angle in 10 out of 12 wrists (83%). No patients displayed worsening deformity after surgery. Two patients underwent subsequent procedures., Conclusions: In patients with early Madelung deformity, Vicker ligament release with radial physiolysis is a safe treatment option that theoretically has the potential to minimize the progression of radiographic deformity., Type of Study/level of Evidence: Therapeutic V., (Copyright © 2019 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.)

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of coxa vara. Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requires special attention and management.Ten patients with the clinical and the radiographic phenotypes of spondyloepiphyseal dysplasia congenita have been recognized and the genotype was compatible with single base substitutions, deletions or duplication of part of the COL2A1 gene (6 patients out of ten have been sequenced). Cervical spine radiographs showed apparent atlantoaxial instability in correlation with odontoid hypoplasia or os-odontoideum.Instability of 8 mm or more and or the presence of symptoms of myelopathy were the main indications for surgery. Posterior cervical fusion from the occiput or C1-3, decompression of C1-2 and application of autorib transfer followed by halo vest immobilization have been applied accordingly.Orthopedic management of children with spondyloepiphyseal dysplasia congenita (SEDC) should begin with the cervical spine to avoid serious neurological deficits and or mortality.