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Imperforate oropharynx-costo vetebral anomalies syndrome
rareImperforate 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.
- Identifiers
- MONDO:0017162 Orphanet:2759
- Also known as
- imperforate oropharynx-costo vetebral anomalies · Seghers syndrome
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