title: Fuhrmann syndrome associated with cortical dysplasia.
abstract: 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.
authors.affiliation: Dept. of Child Neurology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
authors.forename: F M
authors.initials: FM
authors.lastname: Aynaci
authors.forename: O
authors.initials: O
authors.lastname: Aynaci
authors.forename: A
authors.initials: A
authors.lastname: Ahmetoğlu
authors.forename: F
authors.initials: F
authors.lastname: Celep
mesh_terms: 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