Abstract
Three male children with identical short-segment Hirschsprung's disease born to a young married couple are reported. There was no positive family history despite an extensive search. There were no associated abnormalities. Although sex-modified multifactorial inheritance, with males having a lower threshold of genes for expression of Hirschsprung's disease, is accepted, the identical expression of the disorder in the three siblings presented suggests a dominant, possibly X-linked gene with variable penetrance. Another possibility is that an identical micro-environmental factor was present prenatally resulting in all three boys having Hirschsprung's disease. This is the first report of three siblings with identical short-segment Hirschsprung's disease.
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Shaw, K.S., Rubin, S.Z. Anatomically identical short-segment Hirschsprung's disease in three male siblings. Pediatr Surg Int 5, 359–360 (1990). https://doi.org/10.1007/BF00177106
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DOI: https://doi.org/10.1007/BF00177106