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Association of Joubert Syndrome and Hirschsprung disease

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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.

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Author information

Authors and Affiliations

  1. Department of Paediatric Medicine, NRS Medical College and Hospital, Kolkata, 700 014, West Bengal, India

    Radheshyam Purkait, Rajarshi Basu & Rituparna Das

  2. Department of Pathology, IPGMER and SSKM Hospital, Kolkata, India

    Uttara Chatterjee

Authors
  1. Radheshyam Purkait
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  2. Rajarshi Basu
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  3. Rituparna Das
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  4. Uttara Chatterjee
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Corresponding author

Correspondence to Radheshyam Purkait.

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Purkait, R., Basu, R., Das, R. et al. Association of Joubert Syndrome and Hirschsprung disease. Indian Pediatr 52, 61–62 (2015). https://doi.org/10.1007/s13312-015-0568-3

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  • DOI: https://doi.org/10.1007/s13312-015-0568-3

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