Two female siblings with a previously unreported MCA/MR syndrome: Pre and postnatal growth retardation, iris colobomata, spasticity, facial dysmorphism and dilated ventricles


Yuksel A., Seven M. , Deviren A. , Soylemez M., Hacihanefioglu S., Ulutin T. , ...More

GENETIC COUNSELING, vol.10, no.3, pp.265-269, 1999 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 10 Issue: 3
  • Publication Date: 1999
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.265-269

Abstract

Two female siblings with a previously unreported MCA/MR syndrome: Pre- and postnatal growth retardation, iris colobomata, spasticity, facial dysmorphism and dilated ventricles: We report two siblings from non consanguineous parents with a similar MCA/MR syndrome: Pre-and postnatal growth retardation, microcephaly, mental retardation, iris colobomata, facial dysmorphism, spasticity dilated ventricles and abnormal immunoglobulin levels. Review of published reports and the use of the London Dysmorphology Database suggests that these siblings may present a new syndrome.