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: F M Aynaci, O Aynaci, A Ahmetoğlu, F Celep
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 12 Issue 1 Pg. 49-54 ( 2001) ISSN: 1015-8146 [Print] Switzerland
• PMID: 11332978 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Bone Diseases, Developmental (diagnostic imaging, genetics)
• Cerebral Cortex (abnormalities)
• Foot Deformities, Congenital
• Hand Deformities, Congenital
• Humans
• Infant, Newborn
• Leg (abnormalities)
• Magnetic Resonance Imaging
• Male
• Pedigree
• Radiography
• Syndrome