Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome
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
growth disorders, research, research support, report, male, physiopathology, child, metabolic diseases, complications, metabolism, diagnosis, calcium, hypercalcemia, adult, syndrome, humans, ireland, female, nephrocalcinosis
1296-1298
Reardon, W.
ba3446e4-2f89-4f92-838d-34656b774e0e
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
2008
Reardon, W.
ba3446e4-2f89-4f92-838d-34656b774e0e
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Reardon, W. and Temple, I.K.
(2008)
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome.
American Journal of Medical Genetics part A, 146A (10), .
(doi:10.1002/ajmg.a.32250).
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
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Published date: 2008
Keywords:
growth disorders, research, research support, report, male, physiopathology, child, metabolic diseases, complications, metabolism, diagnosis, calcium, hypercalcemia, adult, syndrome, humans, ireland, female, nephrocalcinosis
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Local EPrints ID: 60150
URI: http://eprints.soton.ac.uk/id/eprint/60150
ISSN: 1552-4825
PURE UUID: db0c8b96-fc9e-4625-aa24-a54d0edcff91
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Date deposited: 03 Sep 2008
Last modified: 16 Mar 2024 03:03
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Author:
W. Reardon
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