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, sa.3, ss.265-269, 1999 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10 Sayı: 3
  • Basım Tarihi: 1999
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.265-269
  • İstanbul Üniversitesi Adresli: Evet

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.