[MIM 187 760, 187 770]

(thoraco-laryngo-pelvic dysplasia)

Very rare: prevalence < 1/106. Association of a thoraco-pelvic dysostosis with a laryngeal stenosis. 

Clinical features:

-        small, narrow chest with short ribs; unlike Jeunes syndrome, the chest is bell-shaped

-        small and narrow pelvis

-        laryngeal stenosis: the laryngeal involvement may be secondary to intubation in the neonatal period.

Major neonatal respiratory distress. The combination of a narrow thorax with a narrow pelvis give the impression of a protruding abdomen.

Anesthetic implications: 

restrictive respiratory syndrome, subglottic stenosis

References : 

-        Miller TL, Cox T, Blackson T, Paul D et al.
Pulmonary function assessment in an infant with Barnes syndrome : proactive evaluation for surgical intervention.
Pediatrics 2006, 118: e1264-7.

-        Wood E., Kearns D.
Laryngotracheal stenosis in thoracolaryngopelvic dysplasia: Barnes syndrome.
Otolaryngol, Head & Neck Surg 1995; 113: 807-9

-        Patel SH, Banzali FM, Post RJ, Nguyen CV, Benoit RM, Tieu DD, Stranc DS, Conte AH, Rudikoff AG.
Parturient with Barnes syndrome (thoracolaryngopelvic dysplasia) undergoing cesarean delivery of a neonate with Barnes syndrome : a case report.
A&A Practice 2018 ; 11 : 151-4.

       

Updated: October 2018