Elsevier, Journal of Pediatric Surgery Case Reports, 9(1), p. 308-310, 2013
DOI: 10.1016/j.epsc.2013.08.008
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Pallister Hall syndrome (PHS) is a rare polymorphic syndrome of autosomal dominant inheritance characterized by the coexixtance of an hypotalamic hamartoma and polydactyly. Anorectal malformations are commonly present in patients with PHS. Hirschsprung's disease can exist in isolation or associated with a variety of genetic syndromes. In the current report, we present a patient with PHS, anorectal malformation and total colonic Hirschsprung’s disease.