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

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.

• Authors: A Cayir, S Tasdemir, R Eroz, I Yuce, Z Orbak, A Tatar
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 24 Issue 3 Pg. 307-12 ( 2013) ISSN: 1015-8146 [Print] Switzerland
• PMID: 24341146 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Thyroxine

Topics

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