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. M. , Hacihanefioglu S., Ulutin T., ...Daha Fazla

GENETIC COUNSELING, cilt.10, ss.265-269, 1999 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 10 Konu: 3
  • Basım Tarihi: 1999
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.265-269

Özet

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.