Congenital subglottic stenosis in two unrelated pairs of siblings

Abstract

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.

Idiopathic subglottic stenosis in Saskatchewan Hutterite population

“…15,16,21,22 As mentioned before, several cases in the literature have emerged suggesting an underlying genetic predisposition for the development of idiopathic subglottic stenosis. 5,6,10,11 Our results strengthen this hypothesis by presenting yet another pair of sisters afflicted by idiopathic subglottic stenosis, and by demonstrating that the cumulative incidence of idiopathic subglottic stenosis is much higher in the genetically isolated Hutterite population than in the Saskatchewan general population. However, the typical mature age of presentation for idiopathic subglottic stenosis argues against a sole genetic cause.…”

“…4 Although familial occurrence of congenital subglottic stenosis is rare, there are a few reports in the literature. 4,5…”

“…A few reports in the literature also suggest that an underlying genetic predisposition may exist for the development of subglottic stenosis. 5,6,10 The first series of cases to suggest a genetic predisposition described two pairs of sisters and a mother and daughter, all adult patients who presented with idiopathic subglottic stenosis in the absence of all other contributing factors. 10 Additionally, a recent report presented twin sisters discovered to have idiopathic subglottic stenosis in their forties.…”

“…10 Additionally, a recent report presented twin sisters discovered to have idiopathic subglottic stenosis in their forties. 11 Cases of congenital subglottic stenosis have also been described in two unrelated pairs of siblings from unrelated parents, 5 as well as in three children born to consanguineous parents. 6 These reports strengthen the hypothesis that there may be a genetic component to the development of subglottic stenosis.…”

“…4 Although familial occurrence of congenital subglottic stenosis is rare, there are a few reports in the literature. 4,5 Idiopathic cases account for only a minority of all subglottic stenosis cases and are commonly termed idiopathic subglottic stenosis. A diagnosis of idiopathic subglottic stenosis cannot be reached until all the above known causes of subglottic stenosis have been carefully eliminated.…”