伴有脱发、唇外翻、睑外翻及智力发育迟缓的先天性鱼鳞病——一种新的遗传综合征。
Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation--a new genetic syndrome.
作者信息
Jagell S F, Holmgren G, Hofer P A
出版信息
Clin Genet. 1987 Feb;31(2):102-8. doi: 10.1111/j.1399-0004.1987.tb02777.x.
Abstract
A syndrome with severe generalized congenital ichthyosis, alopecia, eclabion, ectropion and mental retardation without neurological symptoms or macular changes in the eyes was seen in two sibs and in two aunts and uncles in an inbred North-Swedish family. The clinical picture of the patients in the present family strongly deviated from that seen in the Sjögren-Larsson syndrome found in the same area. This could be a new syndrome with autosomal recessive inheritance.
摘要
在一个近亲结婚的瑞典北部家庭中，两名同胞以及两名叔伯患有一种综合征，其症状包括严重的全身性先天性鱼鳞病、脱发、唇外翻、睑外翻和智力发育迟缓，但无神经症状或眼部黄斑改变。本家族中患者的临床表现与在同一地区发现的舍格伦 - 拉尔松综合征有很大差异。这可能是一种具有常染色体隐性遗传的新综合征。
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