Prenatal diagnosis of goldenhar syndrome with unusual features by 3D ultrasonography

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dc.authorscopusid15831744800
dc.authorscopusid16678684600
dc.authorscopusid6508114123
dc.authorscopusid35069008100
dc.authorscopusid25630294200
dc.contributor.authorGuzelmansur, I.
dc.contributor.authorCeylaner, G.
dc.contributor.authorCeylaner, S.
dc.contributor.authorCeylan, N.
dc.contributor.authorDaplan, T.
dc.date.accessioned2024-09-19T15:41:20Z
dc.date.available2024-09-19T15:41:20Z
dc.date.issued2013
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractPrenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography: Oculo-auriculo-vertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, and mandible) and spinal anomalies. We report a patient with unusual features diagnosed prenatally by 3D ultrasonography at 21 weeks' gestation without a family history. An early diagnosis was suggested by observation of a maxillary cleft-plate, multiple vertebral segmentation defects and hypoplastic thumb. Postnatal evaluation also revealed ambiguous genitalia and club feet in addition to the prenatally and postnatally diagnosed classical Goldenhar syndrome features like hemifacial microsomia, preauricular and facial skin tags, coloboma of eyelids, epibulbar dermoid.en_US
dc.identifier.endpage325en_US
dc.identifier.issn1015-8146
dc.identifier.issue3en_US
dc.identifier.pmid24341148en_US
dc.identifier.scopus2-s2.0-84887013236en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage319en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12483/14194
dc.identifier.volume24en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject3D ultrasonographyen_US
dc.subjectGoldenhar syndromeen_US
dc.subjectPrenatal diagnosisen_US
dc.titlePrenatal diagnosis of goldenhar syndrome with unusual features by 3D ultrasonographyen_US
dc.typeArticleen_US

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