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

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

Author information

  • 1Department of Pediatrics, Division of Pediatric Endocrinology, Ataturk University, Erzurum, Turkey.
  • 2Department of Medical Genetics, Ataturk University, Erzurum, Turkey.
  • 3Department of Medical Genetics, Duzce University, Duzce, Turkey.
  • 4Department of Radiology, Ataturk University, Erzurum, Turkey.

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.

PMID:
24341146
[PubMed - indexed for MEDLINE]
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