Çayır, AtillaTaşdemir, ŞenerEröz, RecepYüce, İhsanOrbak, ZerrinTatar, Abdulgani2020-04-302020-04-3020131015-8146https://hdl.handle.net/20.500.12684/2723Yuce, Ihsan/0000-0003-1068-0970WOS: 000337197300009PubMed: 24341146Anophthalmia-Plus Syndrome with unusual findings. A clinical report and review of the literature: 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.eninfo:eu-repo/semantics/closedAccessAnophthalmia-Plus SyndromeCentral hypothyroidismChiari type 2 malformationConductive hearing lossDevelopmental regressionArticle243307312WOS:000337197300009N/AQ4