Beighton P, Hamersma H
S Afr Med J. 1979 May 12;55(20):783-8.
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.
骨硬化症是一种潜在致命的遗传性骨骼过度生长疾病,在南非的阿非利卡人群体中,其最低患病率为1/60000。早期表现为并指畸形和面瘫,任何患有这些异常的阿非利卡族婴儿都应考虑进行诊断。目前尚无药物治疗方法,但整容手术、颅神经减压和预防性颅骨切除术可能有价值。