Thoracolaryngopelvic dysplasia
Alternate Names
TLPD; Barnes syndrome; Autosomal dominant thoracolaryngopelvic dysplasia
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
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
Thoracolaryngopelvic dysplasia is a rare disease.
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Thoracolaryngopelvic dysplasia
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