Skeletal dysplasia: Respiratory management during infancy

Abstract

Background: Skeletal dysplasia encompasses a variety of developmental disorders of the bone and cartilage that manifest as disproportionate shortening of limbs and trunk in the neonate. Many types of skeletal dysplasia are complicated by respiratory failure at or soon after birth and require intensive care and prolonged hospitalization. Respiratory complications in these infants are complex and are characterized by airway anomalies, restrictive lung disease due to a narrow and abnormally compliant chest wall, pulmonary hypoplasia, and central apnea. Appropriate management of these unique patients requires a clear understanding of the pathophysiology and use of pulmonary function tests for early recognition and management of complications.

Conclusion: This review provides an overview of the underlying respiratory pathology and a practical guide to the newborn care provider for the diagnosis and management of respiratory complications in infants with skeletal dysplasia.

Keywords: Infants; Respiratory; Skeletal dysplasia.

Figure 1

Modified pulmonary graphics of the transpulmonary pressure volume (A) and flow volume (B) relationships from the patient with Barnes syndrome. The right limb of the transpulmonary pressure-volume curve represents inspiration, and the left limb of the transpulmonary pressure-volume curve represents deflation. The C20/C total ratio represents the ratio of the slope of the last 20% of the inflation curve divided by C total as represented by the straight solid line in the middle of the transpulmonary pressure volume curve. C, compliance.

Figure 2

Trends in respiratory mechanics and thoracoabdominal measurements at baseline (0; 8 weeks postnatal/5 weeks on drug) and in response to ENB-0040. Solid line indicates averaged patient measurements. Dashed line indicates predicted normal values. PCV, pressure control ventilation; CPAP, continuous positive airway pressure; %RC, percentage of rib cage contribution to tidal volume excursions; phase angle in degrees. Illustrations modified from Rodriguez et al. [33].

Figure 3

Anteroposterior chest radiographs showing progressive improvement in thoracic cage mineralization. A: Patient at baseline (3 weeks postnatal). B: Patient after 12 weeks of treatment [33]. Permission to reproduce and copyright license obtained from John Wiley and Sons, Inc., licensed content publisher.

Figure 4

Flow volume curves for patients 1 and 2 at baseline and after 10 days of bethanechol treatment. Illustrations modified from Panitch et al. [64].