Imperforate oropharynx-costo vetebral anomalies syndrome
Imperforate oropharynx-costo vetebral anomalies syndrome
Definition
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.
Also known as Seghers syndrome — per MONDO