Media type: E-Article Title: Severe axial anomalies in the oculo‐auriculo‐vertebral (Goldenhar) complex Contributor: Rodríguez, José Ignacio; Palacios, José; Lapunzina, Pablo Published: Wiley, 1993 Published in: American Journal of Medical Genetics, 47 (1993) 1, Seite 69-74 Language: English DOI: 10.1002/ajmg.1320470115 ISSN: 0148-7299; 1096-8628 Keywords: Genetics (clinical) Origination: Footnote: Description: <jats:title>Abstract</jats:title><jats:p>We have studied 4 infants with oculo‐auriculovertebral (OAV) complex or Goldenhar “syndrome” who also had severe axial anomalies, including multiple vertebral segmentation errors affecting the thoracic and the lumbar spine. One of them presented a previously unreported pattern of vertebral and rib anomalies similar to spondylocostal dysostosis. Three patients had twins, and all 4 patients had other associated non‐skeletal malformations which affected the midline, i.e., cleft lip and palate, esophageal atresia with tracheoesophageal fistula, and ventricular septal defect.</jats:p><jats:p>The broad extent of the axial anomalies, the association with midline defects and twinning, and the combination in the same patient of two distinct conditions support the concept that OAV complex is a polytopic developmental field defect arising during blastogenesis. © 1993 Wiley‐Liss, Inc.</jats:p>