title: Waardenburg syndrome associated with laryngomalacia.
abstract: Waardenburg syndrome (WS) is a rare autosomal dominant condition characterised by sensorineural hearing loss, in conjunction with pigmentary abnormalities and defects of the neural crest-derived tissues. Depending on the additional phenotypic characteristics, WS is classified into four types, viz. WS1, WS2, WS3 and WS4. We report a 45-day-old male infant with WS1, who presented with inspiratory stridor associated with difficulty in respiration. Direct flexible laryngoscopic examination during evaluation confirmed laryngomalacia as the cause of the symptoms. The baby was managed conservatively and was discharged with appropriate advice to the mother, including the need for evaluation at regular intervals. There was gradual improvement in his symptoms, and by one year of age, he was completely symptom free. To our knowledge, laryngomalacia as a part of WS has not been documented to date in the English literature. We also briefly discussed the probable embryological basis for the observed association.
authors.affiliation: Department of Paediatrics, The Institute of Child Health, 11 Dr Biresh Guha Street, Kolkata, West Bengal 700017, India. rajoothapa@yahoo.co.in
authors.forename: R
authors.initials: R
authors.lastname: Thapa
authors.forename: D
authors.initials: D
authors.lastname: Mallick
authors.forename: A
authors.initials: A
authors.lastname: Ghosh
authors.forename: A
authors.initials: A
authors.lastname: Ghosh
mesh_terms: D006801:Humans; D007223:Infant; D055092:Laryngomalacia / Q000150:complications* / Q000151:congenital*; D008297:Male; D012135:Respiratory Sounds / Q000209:etiology; D014849:Waardenburg Syndrome / Q000150:complications* / Q000175:diagnosis*