ANOPHTHALMIA-PLUS SYNDROME WITH UNUSUAL FINDINGS. A CLINICAL REPORT AND REVIEW OF THE LITERATURE
Küçük Resim Yok
Tarih
2013
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Anophthalmia-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.
Açıklama
Yuce, Ihsan/0000-0003-1068-0970
WOS: 000337197300009
PubMed: 24341146
WOS: 000337197300009
PubMed: 24341146
Anahtar Kelimeler
Anophthalmia-Plus Syndrome, Central hypothyroidism, Chiari type 2 malformation, Conductive hearing loss, Developmental regression
Kaynak
Genetic Counseling
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
24
Sayı
3
