A new case of Grange syndrome without cardiac findings
| Autor: | Donna Wallerstein, Kenneth Lieberman, Robert Wallerstein, Valerie L. Johnson, Ann Marie Augustyn, Leslie Elton, Beatriz Tejeiro |
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| Rok vydání: | 2006 |
| Předmět: |
Heart Defects
Congenital medicine.medical_specialty Brachysyndactyly media_common.quotation_subject Disease Bone fragility Renal artery stenosis Renal Artery Internal medicine Genetics medicine Humans Abnormalities Multiple Girl Genetics (clinical) media_common Learning Disabilities Vascular disease business.industry Grange syndrome Syndrome medicine.disease Radiography Bone Diseases Metabolic Hypertension Renovascular Child Preschool Cardiology Female Syndactyly business Kidney disease |
| Zdroj: | American Journal of Medical Genetics Part A. :1316-1320 |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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