title: Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients.
abstract: Two profoundly mentally retarded, unrelated males are reported with an unidentified multiple congenital anomaly/mental retardation syndrome, including early balding, patella luxations, small hands and feet, and hypogonadism, similar to a previous publication in this journal of a severely mentally retarded male patient with dysmorphic features.
authors: Centre for Human Genetics, University of Leuven, Belgium.
authors: J P
authors: JP
authors: Fryns
authors: P
authors: P
authors: Thiry
authors: J
authors: J
authors: Geutjens
authors: E
authors: E
authors: Smeets
authors: L
authors: L
authors: Vinken
authors: H
authors: H
authors: Van den Berghe
mesh_terms: D000328:Adult; D000505:Alopecia / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009132:Muscles / Q000473:pathology; D010329:Patella / Q000002:abnormalities; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome