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.