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Öğe Prenatal diagnosis of goldenhar syndrome with unusual features by 3D ultrasonography(2013) Guzelmansur, I.; Ceylaner, G.; Ceylaner, S.; Ceylan, N.; Daplan, T.Prenatal 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.Öğe PRENATAL DIAGNOSIS OF GOLDENHAR SYNDROME WITH UNUSUAL FEATURES BY 3D ULTRASONOGRAPHY(Medecine Et Hygiene, 2013) Guzelmansur, I.; Ceylaner, G.; Ceylaner, S.; Ceylan, N.; Daplan, T.Prenatal 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.Öğe A PRENATALLY DIAGNOSED CASE OF SIRENOMELIA WITH POLYDACTYLY AND VESTIGIAL TAIL(Medecine Et Hygiene, 2008) Guven, M. A.; Uzel, M.; Ceylaner, S.; Coskun, A.; Ceylaner, G.; Gungoren, A.A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail: We are presenting a prenatally diagnosed case with sirenomelia, vestigial tail and polydactyly. A 30-year-old woman at 16 weeks of gestation with dichorionic twins was admitted to the hospital. Prenatal ultrasound demonstrated fusion of the lower limbs in one member and normal femurs. tibias and fibulas, and normal vertebras in the second twin, suggesting the diagnosis of sirenomelia. The twins were delivered vaginally at 35 weeks after spontaneous onset of labor. The affected newborn died after 24 hours and postnatal examination revealed unseparated lower limbs with extreme retroversion, bilateral pes equinus, unilateral postaxial polydactyly, a vestigial tail on the sacral region, a large and wide penis and anal atresia. There is only one previous report of sirenomelia with vestigial tail in the literature, However, a large, wide penis and polydactyly have not been reported before in association with this anomaly.
