| Literature DB >> 16691574 |
Robert Wallerstein1, Ann Marie Augustyn, Donna Wallerstein, Leslie Elton, Beatriz Tejeiro, Valerie Johnson, Kenneth Lieberman.
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. Copyright 2006 Wiley-Liss, Inc.Entities:
Mesh:
Year: 2006 PMID: 16691574 DOI: 10.1002/ajmg.a.31125
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802