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S Afr Med J. 1979 May 12;55(20):783-8.

Sclerosteosis in South Africa.

Abstract

Sclerosteosis is a potentially lethal inherited disorder of skeletal overgrowth which has a minimum prevalence of 1 in 60,000 in the Afrikaner community of South Africa. Early presenting features are syndactyly and facial palsy, and the diagnosis should be considered in any infant of Afrikaner stock with these abnormalities. No medical treatment is available, but cosmetic surgery, cranial nerve decompression and prophylactic craniectomy be be of value.

PMID:
223247
[Indexed for MEDLINE]
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