Fryns anophthalmia-plus syndrome: two rare cases

Genet Couns. 2014;25(4):395-8.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / pathology*
  • Anophthalmos / diagnosis
  • Anophthalmos / pathology*
  • Cecum / abnormalities*
  • Cecum / surgery
  • Female
  • Humans
  • Infant, Newborn

Supplementary concepts

  • Anophthalmia plus syndrome