Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome

Mindy H. Li*, Moriah Eberhard, Pamela Mudd, Luv Javia, Robert Zimmerman, Nahla Khalek, Elaine H. Zackai

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Pallister-Hall syndrome is a complex malformation syndrome characterized by a wide range of anomalies including hypothalamic hamartoma, polydactyly, bifid epiglottis, and genitourinary abnormalities. It is usually caused by truncating frameshift/nonsense and splicing mutations in the middle third of GLI3. The clinical course ranges from mild to lethal in the neonatal period. We present the first patient with Pallister-Hall syndrome reported with total colonic aganglionosis, a rare form of Hirschsprung disease with poor long-term outcome. The patient also had an imperforate anus, which is the third individual with Pallister-Hall syndrome reported with both Hirschsprung disease and an imperforate anus. Molecular testing via amniocentesis showed an apparently de novo novel nonsense mutation c.2641 C>T (p.Gln881*). His overall medical course was difficult and was complicated by respiratory failure and pan-hypopituitarism. Invasive care was ultimately withdrawn, and the patient expired at three months of age. This patient's phenotype was complex with unusual gastrointestinal features ultimately leading to a unfavorable prognosis and outcome, highlighting the range of clinical severity in patients with Pallister-Hall syndrome.

Original languageEnglish (US)
Pages (from-to)617-620
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number3
StatePublished - Mar 1 2015


  • GLI3
  • Hirschprung disease
  • Imperforate anus
  • Pallister-Hall Syndrome
  • Total colonic aganglionosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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