Ⅰ型软骨发育不全1例。
A case of achondrogenesis type I.
作者信息
Bökesoy I, Aydin E, Gazilerli S
出版信息
Hum Genet. 1984;67(3):349-50. doi: 10.1007/BF00291368.
PMID:6469245
Abstract
A case of achondrogenesis type I was observed in a stillborn infant of consanguineous parents. Additional abnormalities included cleft palate, corneal clouding, ear deformities, aplastic testes, and anal atresia. Radiological and histological findings are evaluated for the differential diagnosis.
摘要
在一对近亲结婚父母的死产婴儿中观察到1型软骨发育不全病例。其他异常包括腭裂、角膜混浊、耳部畸形、睾丸发育不全和肛门闭锁。对放射学和组织学检查结果进行评估以用于鉴别诊断。
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