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[Ulnar lengthening in osteochondroma (multiple cartilagenous exostoses) of the forearm].

The osteochondroma is the most frequent bone tumor to occur during the period of growth. The multiple hereditary form often involves the forearms. Depending on localisation and size of the tumor, shortening of the bones in the forearm, angular malalignments and functional impairment of the wrist and elbow joints may result. Early diagnosis and surgery in the growing child can prevent these complications. 13 children were operated on altogether 15 forearms. In nine cases lengthening of the ulna was necessary to correct ulnar instability of the wrist as well as improving the support of the carpus and preventing dislocation of the radial head.

Adolescent↗

[Incidence of "recurrences" following surgical removal of ear canal exostoses].

A clinical review of 55 patients, who underwent an operative removal of exostosis of the external ear canal during the last 10 years, brought us to two main conclusions. While there are no true recurrences, it is possible in cases of continuous exposure to cold water that in regions which were not touched by the first operations new exostosis will occur. The drilling and sucking noise during the operative procedure might cause an inner ear damage, as the sound transmission is unimpeded. Intraoperative protective measures are recommended.

Adolescent↗

Hereditary multiple exostoses and cervical ventral protuberance causing dysphagia. A case report.

STUDY DESIGN: A case report of a patient with hereditary multiple exostosis and who presented with cervical ventral protuberance causing dysphagia. OBJECTIVES: To present this rare situation and to discuss the treatment and the result obtained. SUMMARY OF BACKGROUND DATA: We found in the literature only one case of exostosis of the cervical spine causing dysphagia. METHODS: The patient, a 16-year-old girl, was affected by hereditary multiple exostosis, as was her father. The diagnosis was confirmed by radiograph, computed tomography, and magnetic resonance imaging, which showed a tumor in the anterior arch of the atlas. The patient was submitted to a transoral approach, and the tumor was excised. RESULTS: The patient had a good evolution 2 years after the surgery without sign of recurrence. CONCLUSIONS: This was a very rare situation, and the result validated the treatment used.

Adolescent↗

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses.

Hereditary multiple exostosis (EXT) is an autosomal dominant skeletal disorder characterized by the formation of cartilage-capped prominences developing from the juxta-epiphyseal regions of the long bones and causing orthopedic deformities and occasionally sarcomatous degeneration. Reviewing a large cohort of 175 EXT patients referred to us over the last 40 years (1955-1995), we found 109 familial forms (62%) and 66 isolated cases (38%). The disease is consistently diagnosed before the age of 12 years and the risk of malignancy, although increased, is quite modest in our series (0.57%). The observation of seven unaffected individuals (six females, one male) with a family history and affected offspring supports the incomplete penetrance of the disease. Moreover, the observation of an unequal sex-ratio with a preponderance of males among probands in this series (103:72, p<0.02) and in all series reported to date (198:133, p<0.001) gives support to the variable penetrance of EXT genes among sexes. Whether this incomplete penetrance is associated with one of the disease genes recently identified in EXT is currently under investigation.

Adolescent↗