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


Guzelmansur I., CEYLANER G., CEYLANER S., CEYLAN N., Daplan T.

Genetic Counseling, vol.24, no.3, pp.319-325, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 3
  • Publication Date: 2013
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.319-325
  • Keywords: Goldenhar syndrome, Prenatal diagnosis, 3D ultrasonography, OCULOAURICULOVERTEBRAL SPECTRUM, HEMIFACIAL MICROSOMIA
  • Lokman Hekim University Affiliated: No

Abstract

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.