Introduction Congenital tracheobronchial stenosis (CTBS) is a rare disease of in most cases unknown etiology. In a previous cohort of patients with CTBS, a mosaic variant in the SHH-gene was identified. Case presentation We hereby report a son (case 1) and his father (case 2) with tracheobronchial malformation. In the severely affected proband a rare SHH variant (c.376G>A p.(Glu126Lys)) was found, which appeared to be inherited from his father who had a similar clinical phenotype. This variant was found to be de novo in the father. Conclusion We identified a variant in SHH as a possible cause of familial tracheobronchial malformation. This case underscores a possible association between the SHH gene and trachea development. Notably, this variant can present with severe symptoms in infancy, but signs and symptoms may be more attenuated in adulthood.
Knottnerus et al. (Mon,) studied this question.