Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome.
Reports of SHORT syndrome have, to date, focused on the clinical features which lie at the core of the diagnosis but there has been little by way of report of long-term outcome, either in terms of medical complications or of intellectual development. We now report two children in whom nephrocalcinosis has developed and a third, adult, with similar findings. It may be that clinicians should be looking among cases of unexplained hypercalcaemia for an alternative phenotypic presentation of this short stature syndrome.
Reardon
William
W
Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland. williereardon@eircom.net
Temple
I Karen
IK
D000328:Adult; D002118:Calcium / Q000378:metabolism*; D002648:Child; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000503:physiopathology*; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis*; D008297:Male; D008659:Metabolic Diseases / Q000175:diagnosis / Q000503:physiopathology*; D009397:Nephrocalcinosis / Q000175:diagnosis*; D013577:Syndrome
D002118:Calcium