Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients.
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.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Thiry
P
P
Geutjens
J
J
Smeets
E
E
Vinken
L
L
Van den Berghe
H
H
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