Fryns "Anophthalmia-Plus" syndrome associated with developmental regression

Clin Dysmorphol. 2003 Jan;12(1):41-3. doi: 10.1097/00019605-200301000-00007.

Abstract

We report a boy with a nasal deformity, choanal atresia, bifid uvula, severe bilateral microphthalmia and a facial cleft who showed regression of development at the age of 2 years with subsequent improvement. We suggest he represents a further case of the rare Fryns "Anophthalmia-Plus" syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Anophthalmos / pathology*
  • Child, Preschool
  • Cleft Lip / pathology
  • Cleft Palate / pathology
  • Developmental Disabilities / pathology*
  • Humans
  • Male
  • Nose / abnormalities