Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes.
We report on sibs of both sexes with a multiple malformation syndrome of cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers. The older boy died in a tonic extension spasm at age 4 months. When discharged, the younger girl was 3.5 months old. This appears to be an autosomal recessive syndrome which to our knowledge has not been described before.
Müller
F M
FM
University Children's Hospital, Mainz, Germany.
Barth
G M
GM
Menger
H
H
Spranger
J
J
D000015:Abnormalities, Multiple / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D003241:Consanguinity; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000150:complications / Q000235:genetics*; D006801:Humans; D006983:Hypertrichosis / Q000150:complications / Q000235:genetics*; D007223:Infant; D008297:Male; D012640:Seizures / Q000150:complications / Q000235:genetics*; D013577:Syndrome