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abstractpubmed· Abstract 2015· item PMID:25638189

Association of Joubert syndrome and Hirschsprung disease. BACKGROUND: Association between Joubert Syndrome and Hirschsprung disease is rare. CASE CHARACTERISTICS: A 9-month-old girl having developmental delay and chronic constipation. OBSERVATION: Molar tooth sign on MRI brain and absence of ganglion cells in rectal biopsy specimen. OUTCOME: Child underwent surgical repair for Hirschsprung disease. MESSAGE: Association of these two rare entities could be explained by ciliopathy.