Association of Joubert Syndrome and Hirschsprung Disease.

ABSTRACT

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.