[Multiple exostosis (Broca-Ombrédanne) associated with the Madelung deformity and congenital cardiopathy].
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We report a case of spontaneous haemothorax in a 19 year old boy with an exostosis of the left second rib. It may have been caused by nontraumatic rupture of markedly dilated pleural vessels, as a result of long-standing friction between the exostosis and the pleura. This is the first report of spontaneous haemothorax, without penetrative injury to the pleura or the diaphragm, in a patient with hereditary multiple exostosis.
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Thirty-five patients who had multiple cartilaginous exostosis and deformities of the wrist and forearm were evaluated to determine the natural history and prognostic factors for the deformities. Radial and ulnar shortening were correlated linearly (r2 = 0.86), showing that both bones of the forearm were symmetrically involved. The angular growth abnormality of the distal aspect of the radius was correlated with radial shortening (r2 = 0.53) and ulnar shortening (r2 = 0.61), but it had no correlation with negative variance of the ulnar (r2 = 0.30). Carpal slip was an independent factor, with no correlation with any of the factors studied. The ulnar tether theory for deformities of the wrist in patients who have multiple cartilaginous exostosis was not substantiated by this study.
Metachondromatosis is a hereditary dominant condition, which was differentiated from multiple hereditary cartilaginous exostoses by Maroteaux in 1971. We observed a family with 4 patients in 3 generations. The condition manifested in early childhood, showed a spontaneous regression after cessation of growth, and could be diagnosed with certainty by radiological signs. We found multiple tiny periarticular calcifications, small exostoses especially on the short tubular bones, and enchondromatous bone changes. The vertebral column takes part in the bone dysplasia. In addition, our patients show deformities of nails and teeth.
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.
Nerve entrapment syndromes of the lower extremity are relatively rare in patients with multiple hereditary osteochondromatosis. A case of tarsal tunnel like symptoms in a 52-year-old woman with a distal tibial osteochondroma is presented. This case emphasizes that the possibility of nerve compression needs to be considered in a patient with multiple hereditary osteochondromatosis and that tibial osteochondromas can be a cause of tarsal tunnel-like symptoms.
Three children with winged scapula due to subscapular osteochondromata are reported. One case with multiple osteochondromatosis had two subscapular lesions. After resection, our cases became normal immediately and had no recurrence.
The cases are presented of two siblings with multiple cutaneous tumours associated with adenomatous polyps of the colon and bony abnormalities. In one patient an adenocarcinoma of the colon supervened, and there was a history of adenocarcinoma of the colon without the presence of other abnormalities in a third sibling. Clinically the sebaceous tumours resembled sebaceous hyperplasia, but histologically they exhibited features of sebaceous adenoma.The association of a variety of multiple soft tissue tumours, particularly epidermal cysts, with polyposis of the colon and bony abnormalities is well recognized. However, multiple solid sebaceous tumours have not been reported previously as a feature of this syndrome. They should in future alert the physician to the possible presence of multiple polyposis of the colon in affected individuals and immediate relatives.
Measurements for radioulnar variance in adults cannot be used in children because the epiphyses are not fully ossified. We describe a method of determining ulnar variance in children by using the distance from the distal metaphysis of the radius to the distal metaphysis of the ulna. Standards for this measurement are presented for ages 1.5 to 15.5 years in boys and girls. These measurements change little with age and may be helpful in establishing shortening of the ulna which may been seen in juvenile rheumatoid arthritis, hereditary multiple exostosis, or other bone and joint diseases with childhood onset.
We report a case of vertebral osteochondroma of C1 causing cord compression and myelopathy in a patient with hereditary multiple exostosis. We highlight the importance of early diagnosis and the appropriate surgery in order to obtain a satisfactory outcome.
Case histories of two family members with multiple exostosis and schizophrenia are presented. There are no previous reports of such an association. The computerized axial tomography scan revealed signs of hydrocephalus in one patient and substantial enlargement of lateral brain ventricles in the other. The mutual occurrence of all three clinical findings (multiple exostosis, ventricular brain enlargement and psychosis) in two family members may suggest a subgroup of patients who manifest schizophrenic symptomatology.
Osteochondromas of the scapula are not rare in occurrence, especially in multiple hereditary exostosis. A scapular exostosis, excised from the ventral surface of the scapula in a 13-year-old girl, produced symptoms of shoulder pain.
A 9-year-old boy with multiple osteochondromas developed progressive transverse myelopathy. Magnetic resonance imaging and CT demonstrated an exostosis at C7-T1 with cord compression.
BACKGROUND: There is little information on the natural history or treatment of osteochondromas arising from the distal aspect of either the tibia or the fibula. It is believed that there is a risk of deformation of the ankle if these exostoses are left untreated or if the physis or neurovascular structures are injured during operative intervention. METHODS: We reviewed the records of twenty-three patients who had been treated for osteochondroma of the distal aspect of the tibia or fibula between 1980 and 1996. Four of the patients had hereditary multiple cartilaginous exostoses. There were seventeen male and six female patients, and the average age at the time of presentation was sixteen years (range, eight to forty-eight years). RESULTS: Preoperative radiographs showed evidence of plastic deformation of the fibula in eleven patients who had a large osteochondroma. Four patients elected not to have an operation. The tumor was excised in nineteen patients. Postoperatively, all nineteen patients had a Musculoskeletal Tumor Society score of 100 percent for function of the lower extremity with pain-free symmetrical and unrestricted motion of the ankle at the latest follow-up examination. Partial remodeling of the tibia and fibula gradually diminished the asymmetry of the ankles in all nineteen operatively managed patients; however, the remodeling was most complete in the younger patients. Pronation deformities of the ankle did not change after excision of the tumor. Complications of operative treatment included four recurrences (only three of which were symptomatic), one sural neuroma, one superficial wound infection, and one instance of growth arrest of the distal aspects of the tibia and fibula. CONCLUSIONS: Osteochondromas of the distal and lateral aspects of the tibia were more often symptomatic than those of the distal aspect of the fibula; they most commonly occurred in the second decade of life with ankle pain, a palpable mass, and unrestricted ankle motion. Untreated or partially excised lesions in skeletally immature patients may become larger and cause plastic deformation of the tibia and fibula and a pronation deformity of the ankle. Ideally, operative intervention should be delayed until skeletal maturity, but, in symptomatic patients, partial excision preserving the physis may be necessary for the relief of symptoms and the prevention of progressive ankle deformity. However, partial excision is associated with a high rate of recurrence, so a close follow-up is required. Skeletally mature patients who are symptomatic may require excision of the tumor.
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A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.