Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A "new" mental retardation syndrome.
作者信息
Fryns J P, Vogels A, van den Berghe H
机构信息
Centre for Human Genetics, University of Leuven, Belgium.
出版信息
Clin Genet. 1990 Feb;37(2):111-6. doi: 10.1111/j.1399-0004.1990.tb03487.x.
Abstract
In this report we describe a distinct and apparently new mental retardation syndrome in four siblings: three brothers and one sister. They present slight to moderate mental retardation associated with a peculiar craniofacial dysmorphism (4/4), hypergonadotrophic hypogonadism (4/4), eunuchoid habitus (4/4), diabetes mellitus (4/4) and epilepsy (3/4).
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