Bifid epiglottis: syndromic constituent rather than isolated anomaly

Area of Science:

• Medical Genetics
• Pediatric Otolaryngology
• Congenital Malformations

Background:

• Bifid epiglottis is a congenital midline cleft of the epiglottis, potentially isolated or part of malformation complexes.
• Its association with Pallister-Hall syndrome (PHS), involving epiglottis, hypothalamus, and digital development, is increasingly recognized.
• The incidence and full spectrum of bifid epiglottis remain largely unknown.

Purpose of the Study:

• To investigate the presentation and associated conditions of bifid epiglottis in pediatric patients.
• To highlight the syndromic nature of bifid epiglottis beyond isolated anomaly.

Main Methods:

• Retrospective review of laryngoscopy findings in 472 children.
• Analysis of four cases diagnosed with bifid epiglottis between January 1995 and December 2004.

Main Results:

• Four children (0.85%) presented with bifid epiglottis, all experiencing stridor.
• One case had isolated tracheomalacia with a partial cleft.
• Three cases had complete clefts associated with complex malformations, including PHS, polycystic kidney disease, and Hirschsprung disease.

Conclusions:

• Bifid epiglottis frequently presents as a component of congenital malformation syndromes.
• A high index of suspicion is warranted for bifid epiglottis in children with brachy-poly-syndactyly and upper airway obstruction symptoms.