Thoracolaryngopelvic Dysplasia

Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.

Epidemiology

Prevalence is unknown but less than 10 cases have been reported in the literature so far.

Clinical description

Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome (see this term) and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. In addition, several cases of thoracopelvic dysostosis (without laryngeal involvement) have been described, which could represent heterogeneous expression of the same syndrome or a distinct entity.

Genetic counseling

Transmission is autosomal dominant.