常染色体隐性遗传性甲毛发发育异常、慢性中性粒细胞减少症和轻度智力发育迟缓。该综合征的描述。
Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation. Delineation of the syndrome.
作者信息
Hernández A, Olivares F, Cantú J M
出版信息
Clin Genet. 1979 Feb;15(2):147-52. doi: 10.1111/j.1399-0004.1979.tb01753.x.
Abstract
This report describes and discusses the occurrence in two sisters of a syndrome consisting of onychotrichodysplasia, chronic neutropenia and mild mental retardation. Family studies revealed parental consanguinity and another possibly affected sister, who died in childhood. Analysis of these cases together with one previously reported case permits the delineation of a distinct syndrome probably caused by an autosomal recessive mutation.
摘要
本报告描述并讨论了两姐妹中出现的一种综合征，该综合征包括甲毛发发育异常、慢性中性粒细胞减少症和轻度智力发育迟缓。家族研究显示父母近亲结婚，还有另一个可能患病的姐妹，她在童年时去世。将这些病例与之前报道的一例病例进行分析，可以明确一种可能由常染色体隐性突变引起的独特综合征。
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