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 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 4
  • Publication Date: 2014
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.395-398
  • Ankara Yıldırım Beyazıt University Affiliated: No

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.