Bilateral Femoral Neck Pseudarthrosis in an Adolescent Girl With Congenital Spondyloepiphyseal Dysplasia. The Treatment Journey: A Case Report.

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.

Severe Multilevel Tracheal Stenosis with Significant Twisting in a Patient with Spondylometaphyseal Dysplasia: A Case Report.

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.

Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.

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_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.

An adolescent case of sellar osteochondromyxoma in the setting of spondyloepiphyseal dysplasia.

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.

Radial Osteotomy With Callus Distraction for the Correction of Severe Madelung Deformity.

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.

Lateral Thoracic Expansion for Jeune's Syndrome, Surgical Approach, and Technical Details.

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.

Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature.

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.

Tracheobronchopathia osteochondroplastica: A rare case of misdiagnosis and difficult intubation.

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.

Use of a 3D Model for the Correction of a Complex Madelung Deformity in a Teenager: A Case Report.

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.

Double-layered patella management in total knee arthroplasty for secondary osteoarthritis: A case report.

Double-layered patella (DLP) is an osseous disorder associated with multiple epiphyseal dysplasia (MED). A thorough investigation should be conducted prior to surgery to assess the role of each layer and their vascularization in order to establish the best surgical strategy. We present the case of a woman in her late 50s with MED, bilateral DLP, and secondary osteoarthritis treated by a left total knee arthroplasty (TKA). To plan the surgical procedure, bilateral knee magnetic resonance imaging was obtained to study the anatomy of the two bony layers and their relationship to the extensor mechanism. In addition, a computed tomography angiography was performed to study the origins of arterial blood supply to the patella layers to avoid postoperative bone necrosis. During a standard TKA procedure, after adjusting the thickness of the posterior layer, we fused both layers using outside-in headless compressive screws. Clinical outcome was satisfactory with no anterior knee pain and radiographs showed signs of bone fusion between layers at last follow-up. No case report was found in the literature in which a full preoperative investigation was made to establish the best surgical management of a DLP during TKA. In such a case, the surgeon should be aware of the distinct roles of both layers (whether in the case of trauma or scheduled surgery) and make sure that the reconstruction plan will provide a favorable outcome.

Treatment outcomes of hips in patients with epiphyseal dysplasia.

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.

Spondyloepiphyseal dysplasia congenita: Use of complementary 3D reconstruction imaging for preoperative planning.

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.

Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.

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.