Congenital subglottic stenosis in two unrelated pairs of siblings

Subglottic stenosis in infants is mostly acquired (secondary) and caused by granulation tissue or submucosal mucous gland hyperplasia after prolonged endotracheal intubation. Subglottic stenosis may also be congenital (primary), and it usually occurs sporadically. There are some reports of its association with inherited anomalies, but there are no previous reports of its familial occurrence in otherwise healthy children. This report describes two pairs of siblings referred for acute inspiratory stridor in whom subglottic stenosis was diagnosed by endoscopy. They were all born at term, and their parents were unrelated. One child had an anteriorly located anus but no other abnormalities.

Without any surgical intervention all had normal breathing at rest, but inspiratory stridor during respiratory infections and upon physical exercise at follow-up 4-9 y later.