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

Frank Ondrey, Andrew Griffith, Carter Van Waes, Susan Rudy, Kathryn Peters, Linda McCullagh, Leslie G. Biesecker

Research output: Contribution to journalArticlepeer-review

45 Scopus citations


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 malformation. Greig cephalopolysyndactyly syndrome (GCPS) comprises polydactyly with 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 subjects with GCPS had a cleft epiglottis. The malformed epiglottis was asymptomatic in all of the prospectively evaluated subjects. One additional PHS subject was found to have bifid epiglottis and a posterior laryngeal cleft on autopsy. We conclude that bifid epiglottis is common in PHS but not GCPS. Posterior laryngeal clefts are an uncommon manifestation of PHS and are identified only in severely affected patients. The diagnosis of a bifid epiglottis should prompt a thorough search for other sometimes asymptomatic anomalies of PHS to provide better medical care and recurrence risk assessment for affected individuals and families.

Original languageEnglish (US)
Pages (from-to)64-67
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number1
StatePublished - Sep 4 2000


  • GLI3
  • Hypothalamic hamartoma
  • Imperforate anus
  • Multiple abnormalities
  • Polydactyly


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