Department of Paediatrics, The Institute of Child Health, 11 Dr Biresh Guha Street, Kolkata, West Bengal 700017, India.
Singapore Med J. 2009 Dec;50(12):e401-3.
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.
瓦登伯革综合征（WS）是一种罕见的常染色体显性遗传病，其特征是感觉神经性听力损失，伴有色素异常和神经嵴衍生组织的缺陷。根据额外的表型特征，WS 分为四型，即 WS1、WS2、WS3 和 WS4。我们报告了一例 45 天大的男性婴儿，患有 WS1，表现为吸气性喘鸣，伴有呼吸困难。评估期间进行直接软性喉镜检查证实了喉软化是症状的原因。患儿接受了保守治疗，并在母亲得到适当建议后出院，包括需要定期评估。他的症状逐渐改善，到一岁时，他完全没有症状了。据我们所知，喉软化作为 WS 的一部分，迄今为止在英文文献中尚未有记载。我们还简要讨论了观察到的相关性的可能胚胎学基础。
