title: Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography.
abstract: Oculoauriculo-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.
authors: Department of Radiology, Antakya Mozaik Maternity Hospital, Antakya, Turkey. igmansur@yahoo.com
authors: I
authors: I
authors: Guzelmansur
authors: Intergen Genetics Centre, Ankara, Turkey.
authors: G
authors: G
authors: Ceylaner
authors: Intergen Genetics Centre, Ankara, Turkey.
authors: S
authors: S
authors: Ceylaner
authors: Department of Radiology, Ege University Faculty of Medicine, Izmir, Turkey.
authors: N
authors: N
authors: Ceylan
authors: Department of Radiology, Mustafa Kemal University, Faculty of Medicine, Hatay, Turkey.
authors: T
authors: T
authors: Daplan
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006053:Goldenhar Syndrome / Q000000981:diagnostic imaging*; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000379:methods*