眼睑囊肿、掌跖角化病、牙发育不全和毛发稀少综合征可能为常染色体隐性性状。
Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait.
作者信息
Schöpf E, Schulz H J, Passarge E
出版信息
Birth Defects Orig Artic Ser. 1971 Jun;7(8):219-21.
PMID:4281327
Abstract
Description is given of two sisters, offspring of a first cousin marriage, who exhibited the following identical lesions: 1) cysts of the borders of upper and lower lids; 2) hypodontia; 3) hypotrichosis; 4) palmo-plantar keratosis and 5) onychodystrophy. It is suggested that this combination represents a previously unrecognized autosomal recessive trait in man.
摘要
描述了一对姐妹，她们是近亲结婚的后代，表现出以下相同的病变：1）上下眼睑边缘囊肿；2）牙齿发育不全；3）毛发稀少；4）掌跖角化病；5）甲营养不良。有人认为这种组合代表了人类一种以前未被认识的常染色体隐性性状。
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