1/60. Kienbock's disease and multiple hereditary osteochondromata: a case report.A case of bilateral forearm localization of multiple hereditary osteochondromata and unilateral Kienbock's disease is reported. Ulnar minus variance is frequent in both diseases. Carpal slip is often found in multiple hereditary osteochondromata. In this case, the extremity having both multiple hereditary osteochondromata and Kienbock's disease had no carpal slip. This might have produced an excess load on the lunate, which might have provoked Kienbock's disease.- - - - - - - - - - ranking = 1keywords = q (Clic here for more details about this article) |
2/60. Molecular and clinical examination of an Italian DEFECT11 family.The DEFECT11 syndrome is a contiguous gene syndrome associated with deletions in the proximal part of chromosome 11p. In this study, we describe in an Italian family the co-existence of multiple exostoses (EXT) and enlarged parietal foramina (FPP), the two major symptoms of this syndrome, with abnormalities of the central nervous system. The latter may be a yet undescribed feature of DEFECT11 syndrome. FISH and molecular analysis allowed us to identify a small deletion on 11p11-p12, further refining the localisation of the FPP gene involved in the DEFECT11 syndrome.- - - - - - - - - - ranking = 277.32190827947keywords = deletion (Clic here for more details about this article) |
3/60. Acetabular dysplasia associated with hereditary multiple exostoses. A case report.Hereditary multiple exostoses is an autosomal dominant disorder characterised by multiple osteochondromata, most commonly affecting the forearm, knee and ankle. Osteochondromata of the proximal femur have been reported to occur in 30% to 90% of affected patients with coxa valga in 25%. Acetabular dysplasia is rare but has been described. This is the first report of a patient requiring surgical intervention. A girl was seen at the age of nine with hereditary multiple exostoses and when 12 developed bilateral pain in the groin. Radiographs showed severely dysplastic acetabula with less than 50% coverage of the femoral heads and widening of the medial joint space. Large sessile osteochondromata were present along the medial side of the femoral neck proximal to the lesser trochanter, with associated coxa valga. The case illustrates the importance of obtaining initial skeletal surveys in children with hereditary multiple exostoses to identify potential problems such as acetabular dysplasia and subluxation of the hip.- - - - - - - - - - ranking = 1keywords = q (Clic here for more details about this article) |
4/60. Bilateral total hip replacement in pseudoachondroplasia.Pseudoachondroplasia is an inherited skeletal dysplasia with short-limbed dwarfism and early onset of osteoarthritis. A 29-year-old pseudoachondroplastic woman presented with progressively painful hips secondary to severe osteoarthritis of both joints, so that total joint replacements were necessary to restore her mobility and quality of life. The implants inserted had to be specifically manufactured in accordance with the individual geometry and reduced bone size. In addition, the implants mechanical resistance to dynamic loading conditions had to be tested prior to total hip replacement surgery.- - - - - - - - - - ranking = 1keywords = q (Clic here for more details about this article) |
5/60. Development of hip dysplasia in hereditary multiple exostosis.In approximately 25% of patients with hereditary multiple exostosis, there is an abnormal osteochondral formation localized in the femoral proximal metaphysis. This formation often causes a mechanically progressive insufficiency of the acetabular cavity, a true developmental hip dysplasia, that together with a coxa valga deformity, which is also present, causes a gradual deterioration in the relations of this joint. This malformation has a poor prognosis and is difficult to manage. Although this entity is rather frequent and quite severe, it is rarely found in the medical literature. The author describes six private cases, taken from a total of 24,000 patients (0.25/1000) as examples of this entity, and provides a review of the literature.- - - - - - - - - - ranking = 2keywords = q (Clic here for more details about this article) |
6/60. Hip arthroscopy in hereditary multiple exostoses: A new perspective of treatment.The cases of 2 children (9 and 11 years old) with hereditary multiple exostoses disease are presented. The lesions were located primarily in the acetabular fossa of the left hip and caused pain and limitation of range of motion. Hip arthroscopy was performed to remove the exostoses without damaging the articular surfaces and the Y cartilage. After the procedure, the pain disappeared and normal range of motion was recovered for both children. Conventional surgery would have required hip dislocation to access these lesions with an increased risk of femoral head necrosis. These cases constitute a new and interesting application of hip arthroscopy.- - - - - - - - - - ranking = 1keywords = q (Clic here for more details about this article) |
7/60. Novel translocation (9;12)(q22;q24) in secondary chondrosarcoma arising from hereditary multiple exostosis.We report a new translocation in a patient with a history of hereditary multiple exostosis (HME) who developed a recurrent grade I chondrosarcoma involving the sacrum and retroperitoneum. Karyotypic analysis of the tumor revealed a sole chromosome abnormality t(9;12)(q22;q24.3). To our knowledge, this translocation has not been previously identified in either chondrosarcoma, HME, or related tumor types. Our novel translocation may be related to the sarcomatous degeneration of the pre-existing exostosis.- - - - - - - - - - ranking = 10keywords = q (Clic here for more details about this article) |
8/60. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.Multiple exostosis, biparietal foramina, minor craniofacial abnormalities, and mental retardation are characteristic of the syndrome associated with a proximal deletion of 11p (MIM # 601224), which has been shown to be a true contiguous gene deletion syndrome. The presence of multiple exostosis is associated with deletion of the EXT2 gene. Similarly, the presence of biparietal foramina has been shown to be associated with the deletion of ALX4 located proximally to EXT2. Specific genes related to mental retardation and craniofacial abnormalities, however, have yet to be identified. We report on a family with a microdeletion of 11(pll.2p11.2) with multiple exostosis and biparietal foramina without mental retardation or craniofacial abnormalities. Our results suggest that genes related to mental retardation and craniofacial development must be located outside of the D11S1785-D11S1385 region.- - - - - - - - - - ranking = 4168.6241441811keywords = deletion syndrome, deletion (Clic here for more details about this article) |
9/60. Thoracic vertebral body exostosis as a cause of myelopathy in a patient with hereditary multiple exostoses.The posterior thoracic vertebral body appears to be a novel origin for an exostosis causing myelopathy. A patient with hereditary multiple exostoses and myelopathy caused by an exostosis originating from the posterior aspect of the T5 vertebral body was treated with a staged anterior decompression/corpectomy and posterior spinal fusion. The patient had near-complete resolution of his myelopathy immediately after undergoing removal of the exostosis through a right-sided lateral thoracotomy approach. This was a unique origin for an exostosis causing spinal cord compression in a patient with hereditary multiple exostoses. The delivery of the exostosis was performed en bloc during the anterior decompression and corpectomy portion of the surgery. This resulted in the expected favorable outcome.- - - - - - - - - - ranking = 1keywords = q (Clic here for more details about this article) |
10/60. association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1.Two boys from separate families presented with hereditary multiple exostoses (EXT) and autism associated with mental retardation. Their fathers both expressed a clinical phenotype of hereditary multiple exostoses milder than those of the patients and without the associated mental disorder. The EXT1 and EXT2 genes from lymphocytes of the affected individuals were analyzed by using denaturing high-performance liquid chromatography and direct sequencing. A novel deletion mutation, 1742delTGT-G in exon 9 of EXT1, causing a frameshift was detected in one boy and his father. Another novel deletion mutation, 2093delTT in exon 11 of EXT1, causing transcription termination was detected in the other affected boy and his father. EXT1 is expressed in the brain, and both EXT1 and EXT2 proteins are associated with glycosyltransferase activities required for the biosynthesis of heparan sulfate, which also has activity in the brain. The coincidental association of mental disorders in the boys was not completely excluded. However, these results suggest the involvement of EXT1 in the development of mental disorders, including mental retardation and autism.- - - - - - - - - - ranking = 834.96572483841keywords = deletion, q (Clic here for more details about this article) |
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