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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 12, No. 3, 2006, pp. 144-145
Bioline Code: hg06027
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 12, No. 3, 2006, pp. 144-145

 en Case Report-ABCD syndrome revisited
Kothari ParasR, Sarda Dinesh, Shankar Gauri, Kulkarni Bharati


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.

Hirsch sprungs' disease, Shah Waardenberg syndrome, total colonic aganglionosis

© Copyright 2006 Indian Journal of Human Genetics.
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