Nutman J, Steinherz R, Sivan Y, Goodman R M
J Med Genet. 1986 Apr;23(2):175-8. doi: 10.1136/jmg.23.2.175.
We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal anomalies associated with the Waardenburg syndrome are reviewed. We conclude that the association between atretic lesions of the gastrointestinal tract and the Waardenburg syndrome may be a significant one.
我们描述了一名可能患有与肛门闭锁、食管闭锁合并气管食管瘘相关的瓦登伯格综合征的患者。我们回顾了另外三例已发表的伴有胃肠道闭锁畸形且与瓦登伯格综合征相关的病例。我们得出结论,胃肠道闭锁性病变与瓦登伯格综合征之间的关联可能具有重要意义。