New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.
Five unrelated patients (a male and 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which has been designated the facio-cutaneous-skeletal (FCS) syndrome and which includes mental retardation with specific sociable, humorous behavior, characteristic facial appearance, excessive generalized skin, postnatal growth failure, and skeletal involvement. Consanguinity was noted in 2 patients, thus autosomal recessive inheritance is suggested.
Borochowitz
Z
Z
Simon Winter Institute for Human Genetics, Bnai-Zion Medical Center, Technion-Faculty of Medicine, Haifa, Israel.
Pavone
L
L
Mazor
G
G
Rizzo
R
R
Dar
H
H
D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D001519:Behavior; D001842:Bone and Bones / Q000002:abnormalities; D003241:Consanguinity; D005145:Face / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D012868:Skin Abnormalities; D013577:Syndrome