2. Academic Validation
  3. A new case of Grange syndrome without cardiac findings

A new case of Grange syndrome without cardiac findings

  • Am J Med Genet A. 2006 Jun 15;140(12):1316-20. doi: 10.1002/ajmg.a.31125.
Robert Wallerstein 1,  Ann Marie Augustyn,  Donna Wallerstein,  Leslie Elton,  Beatriz Tejeiro,  Valerie Johnson,  Kenneth Lieberman
Affiliations

Affiliation

  • 1 Genetics Service, Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, New Jersey 07601, USA. rwallerstein@humed.com
PMID: 16691574 DOI: 10.1002/ajmg.a.31125
Abstract

Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. To date, we know of two reported families with five affected individuals. We report on one of the youngest cases, in a third family, a 3-year-old girl with brachysyndactyly, renal artery stenosis with hypertension, and bone fragility. She does not have apparent cardiac disease, suggesting cardiac anomalies may not be an obligatory finding in this syndrome.

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