Silengo M, Silvestro L, Capizzi G, Lerone M, Seri M, Rosaia L, Romeo G
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Università di Torino, Italy.
J Med Genet. 1998 Feb;35(2):157-8. doi: 10.1136/jmg.35.2.157.
We present two unrelated children, a male and a female, with signs of ectodermal dysplasia, mental retardation, agenesis/ dysgenesis of the corpus callosum, and primary hypothyroidism. Reports of ectodermal dysplasia with CNS malformations or hypothyroidism or both are rare. We suggest that the condition we describe is a distinct entity within the large group of ectodermal dysplasia syndromes and that it has a variable clinical spectrum. As both males and females are affected and in a few reports some parents show minimal signs, the inheritance is likely to be autosomal dominant.
我们报告了两名不相关的儿童，一男一女，他们有外胚层发育不良、智力发育迟缓、胼胝体发育不全/发育异常以及原发性甲状腺功能减退的症状。关于外胚层发育不良合并中枢神经系统畸形或甲状腺功能减退或两者皆有的报道很少。我们认为我们所描述的这种情况是一大组外胚层发育不良综合征中的一种独特病症，并且具有可变的临床谱。由于男性和女性均受影响，且在一些报道中一些父母表现出轻微症状，其遗传方式可能为常染色体显性遗传。
