Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome

Pallister-Hall syndrome (PHS) comprises hypothalamic hamartoma, polydactyly , pituitary dysfunction, laryngotracheal cleft, imperforate anus, and other anomalies. Some patients with PHS have a bifid epiglottis, a rare malforma tion. Greig cephalopolysyndactyly syndrome (GCPS) comprises polydactyly wit h craniofacial malformations without the PHS malformations. Both disorders are caused by mutations in the GLI3 gene. Laryngoscopy on 26 subjects with PHS showed that 15 had a bifid or cleft epiglottis (58%) and none of 14 sub jects with GCPS had a cleft epiglottis, The malformed epiglottis was asympt omatic in all of the prospectively evaluated subjects. One additional PHS s ubject was found to have bifid epiglottis and a posterior laryngeal cleft o n autopsy. We conclude that bifid epiglottis is common in PHS but not GCPS. Posterior laryngeal clefts are an uncommon manifestation of PHS and are id entified only in severely affected patients. The diagnosis of a bifid epigl ottis should prompt a thorough search for other sometimes asymptomatic anom alies of PHS to provide better medical care and recurrence risk assessment for affected individuals and families. Published 2000 Wiley-Liss, Inc.dagge r