WOLCOTT-RALLISON SYNDROME-ASSOCIATED WITH CONGENITAL-MALFORMATIONS AND A MOSAIC DELETION 15Q-11-12

Wolcott-Rallison syndrome is a rare autosomal recessive condition firs t described in 1972. It is characterised by diabetes mellitus which ar ises in early infancy and multiple epiphyseal dysplasia. We describe a n affected girl who had recurrent episodes of hepatic failure for whic h no obvious cause was found. Post-mortem examination revealed abnorma l pancreatic histology and congenital abnormalities of the central ner vous and cardio-respiratory systems which have not been previously des cribed in this condition. She also demonstrated a deletion at 15q 11-1 2 in 65% of her cells.