title: Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome.
abstract: 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.
authors.affiliation: Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland. williereardon@eircom.net
authors.forename: William
authors.initials: W
authors.lastname: Reardon
authors.forename: I Karen
authors.initials: IK
authors.lastname: Temple
mesh_terms: 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
chemical_list: D002118:Calcium