SYNDROME OF THE MONTH - SCLEROSTEOSIS
SYNDROME OF THE MONTH - SCLEROSTEOSIS
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DOI：
10.1136/jmg.25.3.200
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发表时间：
1988-03-01
影响因子：
4
通讯作者：
BEIGHTON, P
中科院分区：
文献类型：
--
作者：
BEIGHTON, P
硬化症是一种严重的常染色体隐性遗传疾病，其中进行性骨过度生长导致偏侧畸形、颅神经卡压和颅内压升高。据记录，约有60名受影响者，其中绝大多数是南非的阿非利卡人。此外，美国、瑞士、日本和巴西报告了散发病例或受影响的同胞。1958年，当Truswell描述了两个不相关的南非女孩患有“并指骨硬化症; Albers-Schonberg病的形态学变体”时，硬化症首次被认为是一个独特的实体。随后Hansen 2在1967年使用了术语“skeleton steose”，其英语化形式“sclerosteosis”已获得普遍接受。Beighton等3于1976年回顾了25例受影响的南非白人的表现，Beighton和Hamersma报告了另外17例患者。4
Sclerosteosis is a severe autosomal recessive disorder in which progressive bone overgrowth leads to gigantism, cranial nerve entrapment, and raised intracranial pressure. About 60 affected persons have been documented, the vast majority in the Afrikaner population of South Africa. In addition, sporadic cases or affected sibs have been reported from the USA, Switzerland, Japan, and Brazil. Sclerosteosis was first recognised as a distinct entity in 1958 when Truswell'described two unrelated South African girls with" osteopetrosis with syndactyly; a morphological variant of Albers-Schonberg disease". Subsequently Hansen2 in 1967 used the term'sklerosteose', which in its anglicised form'sclerosteosis' has gained general acceptance. The manifestations in 25 affected Afrikaners were reviewed by Beighton et al3 in 1976 and a further 17 patients were reported by Beighton and Hamersma. 4