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A new case of Grange syndrome without cardiac findings
Author(s) -
Wallerstein Robert,
Augustyn Ann Marie,
Wallerstein Donna,
Elton Leslie,
Tejeiro Beatriz,
Johnson Valerie,
Lieberman Kenneth
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31125
Subject(s) - medicine , cardiology , renal artery stenosis , fragility , girl , stenosis , renal artery , kidney , psychology , chemistry , developmental psychology
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. © 2006 Wiley‐Liss, Inc.