Fuhrmann syndrome associated with cortical dysplasia.
We describe a male newborn with bilateral angle bowing of femora, absent fibulae, aplasia of the fingernails, hypoplastic toenails, malformed thumbs, hypospadias, inguinal hernia and cortical dysplasia in a consanguineous Turkish Family. The MCA syndrome in the present patient is similar to these reported in 3 affected sibling by Fuhrmann et al.
Aynaci
F M
FM
Dept. of Child Neurology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
Aynaci
O
O
Ahmetoğlu
A
A
Celep
F
F
D000015:Abnormalities, Multiple / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics; D002540:Cerebral Cortex / Q000002:abnormalities*; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D011859:Radiography; D013577:Syndrome