ABCD syndrome revisited.
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Date
2006-09
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Abstract
A four-day-old neonate presented with severe abdominal distention, intermittent bilious vomiting, typical black lock, partial albinism and heterochromatic iris. Ileostomy was done proximal to the transition zone at mid-ileal region (50 cms proximal to ileo-cecal region) All biopsy specimens till the transitional zone were negative for ganglion cells. Distinct features of total colonic aganglionosis and recto-sigmoid Hirschsprung's disease are delineated here.
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Keywords
Hirsch sprungsā² disease, Shah Waardenberg syndrome, total colonic aganglionosis
Citation
Kothari Paras R, Sarda Dinesh, Shankar Gauri, Kulkarni Bharati. ABCD syndrome revisited. Indian Journal of Human Genetics. 2006 Sept; 12(3): 144-145.