Fuhrmann syndrome associated with cortical dysplasia
GENETIC COUNSELING, sa.1, ss.49-54, 2001 (SCI-Expanded)
- Yayın Türü: Makale / Tam Makale
- Basım Tarihi: 2001
- Dergi Adı: GENETIC COUNSELING
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
- Sayfa Sayıları: ss.49-54
- Karadeniz Teknik Üniversitesi Adresli: Evet
Özet
We describe a male newborn with bilateral angle boning 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. (3).