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- W1580212281 abstract "Oculo-auriculo-vertebral (OAV), or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies. Goldenhar-Gorlin syndrome encompasses a wide variety of fetal malformations occurring during embryogenesis. The abnormalities are usually asymmetric affecting facial and vertebral structures. There have been reported associated anomalies involving the cardiac, renal, and pulmonary structures. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. We report the prenatal ultrasonographic diagnosis made at 17 weeks of gestation in a family with a negative history. The prenatal diagnosis was suspected due to the presence of craniofacial anomalies (mouth, orbit, eyes, mandible). The etiology of this rare disease is not fully known, as it has shown itself variable genetically and of unclear causes. The affection is very rare one, 1/25000 live births with M:F report of 3 : 2." @default.
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- W1580212281 date "2011-09-14" @default.
- W1580212281 modified "2023-10-18" @default.
- W1580212281 title "P09.16: Goldenhar's syndrome a case report and review of the literature" @default.
- W1580212281 doi "https://doi.org/10.1002/uog.9740" @default.
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