Fuhrmann syndrome associated with cortical dysplasia

AYNACI F., AYNACI O., AHMETOGLU A., Celep F.

GENETIC COUNSELING, cilt.12, sa.1, ss.49-54, 2001 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12 Sayı: 1
  • Basım Tarihi: 2001
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • 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).