Thoracolaryngopelvic dysplasia

Alternate Names

TLPD; Barnes syndrome; Autosomal dominant thoracolaryngopelvic dysplasia

Autosomal Dominant Inheritance

Clinical features

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.

Signs and symptoms

• Patients present with severe respiratory distress (requiring intubation) during the neonatal period.
• The rib shortening is less severe than in Jeune syndrome 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.

Inheritance

Autosomal dominant

Diagnosis

Diagnosis is through a combination of history, physical examination, X-rays, CT and or MRI scans

Treatment

Treatment is supportive

NIH genetic and rare disease info

• NIH info on Thoracolaryngopelvic dysplasia

Thoracolaryngopelvic dysplasia is a rare disease.

Resources

Frequently asked questions

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