Abstract
Hirschsprung disease (HD) is genetically heterogeneous with approximately 4% familial occurrence. The recurrence risk is higher in patients with severe involvement. We describe the transmission of histotopochemically proven HD from a father with long aganglionic segment disease to a son with ultrashort segment disease. This observation suggests that the length of involvement in HD is related to the variable expression of the gene defect. It also suggests autosomal dominant inheritance of HD.
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Abbreviations
- HD:
-
Hirschsprung disease
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Skopnik, H., Beudt, U., Steinau, G. et al. Hirschsprung disease: Paternal transmission to a son. Eur J Pediatr 152, 467–468 (1993). https://doi.org/10.1007/BF01955050
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DOI: https://doi.org/10.1007/BF01955050