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Genet Couns. 2001;12(1):49-54.

Fuhrmann syndrome associated with cortical dysplasia.

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1
Dept. of Child Neurology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.

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.

PMID:
11332978
[Indexed for MEDLINE]
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