少汗型外胚层发育不良、中枢神经系统畸形及独特面部特征：一种独特疾病实体的确认？
Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?
作者信息
Soekarman D, Fryns J P
机构信息
Centre for Human Genetics, University of Leuven, Belgium.
出版信息
J Med Genet. 1993 Mar;30(3):245-7. doi: 10.1136/jmg.30.3.245.
Abstract
Internal hydrocephalus with partial hypoplasia of the cerebellum was observed in a severely mentally retarded boy who showed signs of ectodermal dysplasia. Diagnostic considerations are discussed. Reports of the triad mental retardation-CNS malformation-ectodermal dysplasia are rare. In 1989 we reported a case with these signs that shows a striking facial similarity to the case presented here.
摘要
在一名患有外胚层发育不良体征的重度智力发育迟缓男孩中观察到伴有小脑部分发育不全的脑积水。文中讨论了诊断方面的考虑因素。智力发育迟缓-中枢神经系统畸形-外胚层发育不良三联征的报道较为罕见。1989年我们报告了一例具有这些体征的病例，该病例与本文所呈现的病例面部特征极为相似。
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