Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature

Genet Couns. 2013;24(3):307-12.

Abstract

We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ears, scarring from cleft palate surgery. Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left choanal atresia and cleft palate. Echocardiography and abdominal ultrasonography were normal. The patient has a 45 dB conductive hearing loss in the left ear. Repeated thyroid function tests were evaluated as compatible with central hypothyroidism. We report a Fryns Anophthalmia-Plus Syndrome in a child with unusual findings including central hypothyroidism, chiari type 2 malformation, conductive hearing loss and developmental regression. Summary of the features reported in the present case and all 14 previous cases that might be defined as APS.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Anophthalmos / diagnosis*
  • Arnold-Chiari Malformation / diagnosis*
  • Child, Preschool
  • Developmental Disabilities / diagnosis*
  • Hearing Loss, Conductive / diagnosis*
  • Humans
  • Hypothyroidism / diagnosis*
  • Hypothyroidism / drug therapy
  • Male
  • Thyroxine / therapeutic use

Substances

  • Thyroxine

Supplementary concepts

  • Anophthalmia plus syndrome