Синдром неперфорованих ротоглотково-реберно-вертебральних аномалій
ORPHA:2759· ICD-10 Q87.5· Imperforate oropharynx-costovertebral anomalies syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Neonatal