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Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome

William Reardon1, I Karen Temple

  • 1Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland. williereardon@eircom.net

American Journal of Medical Genetics. Part A
|April 4, 2008
PubMed

Insights

Reports of SHORT syndrome have focused on clinical features, with little known about long-term outcomes. This study identifies nephrocalcinosis as a potential medical complication in patients with SHORT syndrome.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • SHORT syndrome is a rare genetic disorder characterized by severe intrauterine and postnatal growth retardation, facial dysmorphism, and other features.
  • Previous research has primarily focused on the core clinical manifestations of SHORT syndrome.
  • Long-term medical complications and intellectual development outcomes remain under-reported.

Observation:

  • This report details two pediatric cases and one adult case of SHORT syndrome.
  • Nephrocalcinosis was observed as a significant medical complication in all reported cases.
  • The findings suggest a potential link between unexplained hypercalcemia and atypical presentations of SHORT syndrome.

Findings:

  • Nephrocalcinosis is identified as a previously under-recognized long-term medical complication in individuals with SHORT syndrome.
  • The study highlights the importance of monitoring for hypercalcemia and related renal complications in SHORT syndrome patients.
  • Atypical phenotypic presentations of SHORT syndrome may be associated with unexplained hypercalcemia.

Implications:

  • Clinicians should consider evaluating patients with unexplained hypercalcemia for potential SHORT syndrome.
  • Early identification of nephrocalcinosis can lead to timely intervention and management of renal complications.
  • Further research is warranted to elucidate the genetic and metabolic underpinnings of these observed complications in SHORT syndrome.

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