Fuhrmann syndrome associated with cortical dysplasia


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

GENETIC COUNSELING, vol.12, no.1, pp.49-54, 2001 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 12 Issue: 1
  • Publication Date: 2001
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.49-54
  • Karadeniz Technical University Affiliated: Yes

Abstract

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).