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.

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita

“…The characteristic radiographic ®ndings are anterior beaking of the vertebrae, small irregular epiphyses, metaphyseal irregularity, and short limbs. Although PSACH is associated with signi®cant reduction in stature, it is not usually associated with respiratory compromise, whereas patients with SEDC may have respiratory dif®culties in childhood [Harding et al, 1990].…”

Double heterozygosity in bone growth disorders: Four new observations and review

“…Double heterozygosity for achondroplasia and SEDC results in additive physical characteristics, radiologic features, and clinically relevant sequelae. Chest constriction and small airways are characteristic of achondroplasia [Stokes et al, 1983] while chest constriction and laryngotracheomalacia are characteristic of SEDC [Harding et al, 1990]. Infants with both diagnoses appear to have increased risk for restrictive lung disease and respiratory insufficiency beyond that expected for either heterozygous diagnosis.…”

Malformations of the craniofacial region: Evolutionary, embryonic, genetic, and clinical perspectives

“…An example of multiple mechanisms of respiratory compromise can be found in spondyloepiphyseal dysplasia congenita: small mechanically abnormal chest, tracheobronchomalacia, and/or central apnea due to cervical or medullary compression caused by cervical instability [Harding et al, 1990]. Another possibility is upper-respiratory obstruction based on Robin sequence.…”