title: 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: Department of Pediatrics, Division of Pediatric Endocrinology, Ataturk University, Erzurum, Turkey.
authors: A
authors: A
authors: Cayir
authors: Department of Medical Genetics, Ataturk University, Erzurum, Turkey.
authors: S
authors: S
authors: Tasdemir
authors: Department of Medical Genetics, Duzce University, Duzce, Turkey.
authors: R
authors: R
authors: Eroz
authors: Department of Radiology, Ataturk University, Erzurum, Turkey.
authors: I
authors: I
authors: Yuce
authors: Department of Pediatrics, Division of Pediatric Endocrinology, Ataturk University, Erzurum, Turkey.
authors: Z
authors: Z
authors: Orbak
authors: Department of Medical Genetics, Ataturk University, Erzurum, Turkey.
authors: A
authors: A
authors: Tatar
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000853:Anophthalmos / Q000175:diagnosis*; D001139:Arnold-Chiari Malformation / Q000175:diagnosis*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis*; D006314:Hearing Loss, Conductive / Q000175:diagnosis*; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis* / Q000188:drug therapy; D008297:Male; D013974:Thyroxine / Q000627:therapeutic use
chemical_list: D013974:Thyroxine