High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia

Cartilage-hair hypoplasia (CHH, MIM #250250) is a metaphyseal chondrodysplasia with variable immunodeficiency and increased risk of malignancy. We previously showed that in patients with CHH with chronic respiratory symptoms, the prevalence of bronchiectasis (BE) is 52%.1 The prevalence of BE and the contributing risk factors in the overall CHH population remain unknown. High-resolution computed tomography (HRCT) is the criterion standard investigation for assessing BE; however, radiation exposure is a concern.