A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?
We report on a child we believe may have the same condition described in five children by Burn et al., in 1992 (Clin Dysmorphol 1:137-144). Component manifestations include choanal atresia, cardiac defects, prominent ears, hearing loss, and minor facial anomalies. Our patient also has rather significant short stature, thus adding to the variable phenotype of this condition.
D000015:Abnormalities, Multiple / Q000473:pathology*; D002754:Choanal Atresia / Q000473:pathology*; D019066:Facies; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome