title: Association of Joubert syndrome and Hirschsprung disease.
abstract: BACKGROUND
  Association between Joubert Syndrome and Hirschsprung disease is rare.
  
  
  METHODS
  A 9-month-old girl having developmental delay and chronic constipation.
  
  
  METHODS
  Molar tooth sign on MRI brain and absence of ganglion cells in rectal biopsy specimen.
  
  
  RESULTS
  Child underwent surgical repair for Hirschsprung disease.
  
  
  CONCLUSIONS
  Association of these two rare entities could be explained by ciliopathy.
authors: Department of Paediatric Medicine, NRS Medical College and Hospital, Kolkata; and *Department of Pathology, IPGMER and SSKM Hospital, Kolkata, India. Correspondence to: Dr Radheshyam Purkait, Associate Professor, Department of Paediatric Medicine, NRS Medical College and Hospital, Kolkata 700 014, West Bengal, India. radheshyampurkait@gmail.com.
authors: Radheshyam
authors: R
authors: Purkait
authors: Rajarshi
authors: R
authors: Basu
authors: Rituparna
authors: R
authors: Das
authors: Uttara
authors: U
authors: Chatterjee
mesh_terms: D000015:Abnormalities, Multiple; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D003248:Constipation; D002658:Developmental Disabilities; D005124:Eye Abnormalities; D005260:Female; D006627:Hirschsprung Disease; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic; D012007:Rectum / Q000473:pathology; D012160:Retina / Q000002:abnormalities*