Megacystis, megacolon, and malrotation: A new syndromic association?

A. Pini Prato, V. Rossi, M. Fiore, S. Avanzini, G. Mattioli, F. Sanfilippo, A. Michelazzi, S. Borghini, N. Disma, G. Montobbio, A. Barabino, P. Nozza, I. Ceccherini, S. Gimelli, V. Jasonni

Research output: Contribution to journalArticlepeer-review


Chronic intestinal pseudo-obstruction (CIPO) can occur as a consequence of neuropathies including diffuse Intestinal Neuronal Dysplasia (IND), a relatively rare enteric nervous system (ENS) abnormality. Although various authors reported of diffuse IND associated either with intestinal malrotation or megacystis, the co-existence of these three entities in the same patient has never been described before. The aim of this paper is to report for the first time in literature a series of patient with such association, focusing on one who carries a de novo duplication of chromosome 12, suggesting a new syndromic association (megacolon, megacystis, malrotation).

Original languageEnglish
Pages (from-to)1798-1802
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number8
Publication statusPublished - Aug 2011


  • Chronic intestinal pseudo-obstruction
  • CIPO
  • Duplication
  • IND
  • Intestinal neuronal dysplasia
  • Malrotation
  • Megacolon
  • Megacystis
  • New syndrome
  • NXPH4

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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