Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12.
Wolcott-Rallison syndrome is a rare autosomal recessive condition first described in 1972. It is characterised by diabetes mellitus which arises in early infancy and multiple epiphyseal dysplasia. We describe an affected girl who had recurrent episodes of hepatic failure for which no obvious cause was found. Post-mortem examination revealed abnormal pancreatic histology and congenital abnormalities of the central nervous and cardio-respiratory systems which have not been previously described in this condition. She also demonstrated a deletion at 15q 11-12 in 65% of her cells.
Stewart
F J
FJ
Department of Medical Genetics, Belfast City Hospital, UK.
Carson
D J
DJ
Thomas
P S
PS
Humphreys
M
M
Thornton
C
C
Nevin
N C
NC
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D002658:Developmental Disabilities / Q000150:complications; D004838:Epiphyses / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000002:abnormalities / Q000473:pathology; D009030:Mosaicism; D013577:Syndrome