1.
BMJ Case Rep
; 20122012 Aug 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22891008
RESUMO
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterised by branchial arch anomalies, otological and renal abnormalities. To the best of our knowledge, upper airway obstruction has not been hitherto reported in BOR. The authors report a 19-month-old girl with BOR syndrome with features of severe airway obstruction needing tracheostomy.