Short-segment Hirschsprung's disease, cat eye syndrome, and anorectal malformation: a unique association.
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.
Sinha
Chandrasen K
CK
Department of Paediatric Surgery, Royal London Hospital, Whitechapel, E1 1BB London, UK.
Grewal
Alka
A
Ward
Harry Charles
HC
D000015:Abnormalities, Multiple; D001003:Anal Canal / Q000002:abnormalities; D005128:Eye Diseases / Q000150:complications* / Q000151:congenital; D006627:Hirschsprung Disease / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012007:Rectum / Q000002:abnormalities