title: Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A "new" mental retardation syndrome.
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).
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: A
authors.initials: A
authors.lastname: Vogels
authors.forename: H
authors.initials: H
authors.lastname: van den Berghe
mesh_terms: 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