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Updated: Jul 13, 2026
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Short-segment Hirschsprung's disease, cat eye syndrome, and anorectal malformation: a unique association
Chandrasen K Sinha1, Alka Grewal, Harry Charles Ward
1Department of Paediatric Surgery, Royal London Hospital, Whitechapel, E1 1BB London, UK.
Abstract:
The association of Hirschsprung's disease (HD) and anorectal malformations has been reported in 2.3% to 3.4% cases. Only 2 cases have previously been published where cat eye syndrome was associated with long (but not short) segment HD. Here, we report a case where there appears to be an association among short segment HD, cat eye syndrome, and anorectal malformation, which has not previously been identified. An abnormality in chromosome 22 may be involved in the development of this association.
