FRYNS ANOPHTHALMIA-PLUS SYNDROME: TWO RARE CASES


Bozkurt O., Bidev D., Sari F. N. , Dizdar E. A. , Ulu H. O. , Uras N., ...More

GENETIC COUNSELING, vol.25, no.4, pp.395-398, 2014 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 4
  • Publication Date: 2014
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.395-398

Abstract

Fryns anophthalmia-plus syndrome: two rare cases: Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.