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Rare association of Hirschsprung’s disease and Joubert syndrome

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Abstract

We present the case of an 18-month-old boy with Hirschsprung’s disease who had psychomotor retardation. His clinical and radiological findings were consistent with Joubert syndrome. The patient was the second case to show the association between Hirschsprung’s disease and Joubert syndrome in the literature. As in our case, association of these entities by chance seems to be unlikely. Genetic analysis of new Joubert syndrome and Hirschsprung’s disease patients may identify the candidate genes.

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Authors and Affiliations

  1. Pediatric Neurology Unit, Department of Pediatrics, Faculty of Medicine, Ondokuz Mayis University, 55139, Kurupelit, Samsun, Turkey

    Hamit Ozyurek

  2. Department of Pediatrics, Faculty of Medicine, Ondokuz Mayis University, 55139, Kurupelit, Samsun, Turkey

    Ozlem Eroglu Kayacik & Olcay Gungor

  3. Department of Pathology, Faculty of Medicine, Ondokuz Mayis University, 55139, Kurupelit, Samsun, Turkey

    Filiz Karagoz

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  1. Hamit Ozyurek
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  2. Ozlem Eroglu Kayacik
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  3. Olcay Gungor
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  4. Filiz Karagoz
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Correspondence to Hamit Ozyurek.

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Ozyurek, H., Kayacik, O.E., Gungor, O. et al. Rare association of Hirschsprung’s disease and Joubert syndrome. Eur J Pediatr 167, 475–477 (2008). https://doi.org/10.1007/s00431-007-0504-1

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  • DOI: https://doi.org/10.1007/s00431-007-0504-1

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