ANOPHTHALMIA-PLUS SYNDROME WITH UNUSUAL FINDINGS. A CLINICAL REPORT AND REVIEW OF THE LITERATURE

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dc.contributor.authorÇayır, Atilla
dc.contributor.authorTaşdemir, Şener
dc.contributor.authorEröz, Recep
dc.contributor.authorYüce, İhsan
dc.contributor.authorOrbak, Zerrin
dc.contributor.authorTatar, Abdulgani
dc.date.accessioned2020-04-30T22:39:26Z
dc.date.available2020-04-30T22:39:26Z
dc.date.issued2013
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.descriptionYuce, Ihsan/0000-0003-1068-0970en_US
dc.descriptionWOS: 000337197300009en_US
dc.descriptionPubMed: 24341146en_US
dc.description.abstractAnophthalmia-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.en_US
dc.identifier.endpage312en_US
dc.identifier.issn1015-8146
dc.identifier.issue3en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage307en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12684/2723
dc.identifier.volume24en_US
dc.identifier.wosWOS:000337197300009en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherMedecine Et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAnophthalmia-Plus Syndromeen_US
dc.subjectCentral hypothyroidismen_US
dc.subjectChiari type 2 malformationen_US
dc.subjectConductive hearing lossen_US
dc.subjectDevelopmental regressionen_US
dc.titleANOPHTHALMIA-PLUS SYNDROME WITH UNUSUAL FINDINGS. A CLINICAL REPORT AND REVIEW OF THE LITERATUREen_US
dc.typeArticleen_US

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