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Fuhrmann syndrome associated with cortical dysplasia
F M Aynaci1, O Aynaci, A Ahmetoğlu
1Dept. of Child Neurology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
Genetic Counseling (Geneva, Switzerland)
|May 3, 2001
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.