PMID: 2107046Feb 1, 1990Paper

Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A "new" mental retardation syndrome

Clinical Genetics
J P FrynsH van den Berghe

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).

References

Dec 1, 1984·Clinical Genetics·J P Fryns
Mar 1, 1953·The American Journal of Medicine·A R SOHVAL, L J SOFFER

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