Respiratory complications in children with spondyloepiphyseal dysplasia congenita

Abstract

Mild respiratory distress at birth is a common occurrence in infants with spondyloepiphyseal dysplasia congenita (SEDC) while severe respiratory insufficiency and death have been reported only rarely. We describe three infants with SEDC who experienced severe respiratory complications and required tracheostomies. Two of these infants have also needed long-term continuous positive airway pressure to maintain adequate ventilation. The features and clinical course of these children are described, previous reports of respiratory complications in SEDC are summarized, mechanisms resulting in respiratory problems in SEDC are postulated, and comparison is made with mechanisms giving rise to respiratory risks in other skeletal dysplasias.