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1/48. Treatment of cervical cord compression, caused by hereditary multiple exostosis, with laminoplasty: a case report.

    STUDY DESIGN: Case report. OBJECTIVES: Successful excision of the exostosis within the spinal canal. SUMMARY OF BACKGROUND DATA: Myelopathy caused by exostosis within the spinal canal developed in a 13-year-old boy with hereditary multiple exostosis. methods: Spinous process-splitting laminoplasty with an ultrasonic knife was performed to remove the mass and minimize the possibility of postlaminectomy kyphosis. RESULTS: The spinal canal exostosis with cervical cord compression was excised successfully with laminoplasty. After surgery there has been no recurrence of tumor, and the stability of the cervical spine has been preserved. CONCLUSION: This is the first report of laminoplasty as a useful surgical approach for intraspinal exostosis to prevent postoperative cervical instability.
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2/48. The widened spectrum of multiple cartilaginous exostosis (MCE).

    2 brothers with possible homozygous multiple cartilaginous exostosis (MCE) are reported. The MCE-PD-(Peripheral Dysostosis) syndrome is discussed. A family (father, daughter and son) with Metachondromatosis is presented, and the tendency to spontaneous remission in this condition is emphasized. A "second thought", when considering the diagnosis of mce, seems worthwhile.
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3/48. Spontaneous regression of osteochondromatosis of the radius after lengthening of the ulna: a case report.

    Despite the high incidence, the natural biologic behavior of the osteochondroma is not yet known. In particular, the spontaneous regression of the exostosis is very rare and as yet an undefined phenomenon. Since the first description by Hunter in 1835, only 11 cases have been reported. On reviewing the reports in the literature, all cases were regressed spontaneously without significant mechanical stimuli such as surgical procedures. The reasons for the spontaneous regression were not explained sufficiently. This study describes one additional case of the spontaneous regression of osteochondromatosis of the radius and ulna after change of the mechanical strain or stress with lengthening of the ulna in a patient with multiple hereditary exostosis. The radiographic findings in this study are presented with some hypotheses explaining this interesting phenomenon.
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4/48. 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.
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5/48. A man with hereditary exostoses and high-grade non-Hodgkin's lymphoma of the bone.

    Multiple cartilaginous exostoses (MCE) is an autosomal dominant disorder that can lead to malignant transformation from exostoses to a secondary chondrosarcoma. We present a case report of a 52-year-old man with MCE who had a palpable mass at the left shoulder. At the site of the left proximal humerus, a cartilaginous exostosis was localized, suggesting that the tumor developed by a malignant transformation of an exostosis into a secondary chondrosarcoma. Interestingly, a biopsy showed a diffuse large B-cell lymphoma with Burkitt-like features. To our knowledge, the association of high-grade lymphoma and hereditary exostoses has not been described previously. This case demonstrates that a malignant tumor at the location of a cartilaginous exostosis is not necessarily a chondrosarcoma and that a biopsy is an essential part of the diagnostic work-up.
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6/48. 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.
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7/48. Winging of the scapula in a child with hereditary multiple exostoses.

    A female, 10 years of age, with hereditary multiple exostoses presented with shoulder drop and asymmetry. The results of neurologic examination were normal and winging was not accentuated by active maneuvers of the shoulder. Scapular exostosis was demonstrated to be the structural cause of scapular winging. Only a few cases of children with scapular winging caused by scapular tumors have been reported. However, tumors of the scapula should be excluded in children with static winging of the scapula.
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8/48. 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.
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9/48. 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.
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10/48. Pseudomallet finger associated with exostosis of the phalanx: a report of 2 cases.

    An exostosis around the distal interphalangeal joint can cause finger deformity that resembles mallet finger. We report 2 cases of pseudomallet finger associated with exostosis, both of which were successfully treated with bone resection.
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