Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A "new" mental retardation syndrome.
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).
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Vogels
A
A
van den Berghe
H
H
D000293:Adolescent; D000328:Adult; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D004828:Epilepsies, Partial / Q000235:genetics; D004830:Epilepsy, Tonic-Clonic / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D003294:Seizures, Febrile / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome