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.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Bone Diseases, Metabolic / genetics
  • Child, Preschool
  • Female
  • Heart Defects, Congenital
  • Humans
  • Hypertension, Renovascular / complications
  • Learning Disabilities / genetics
  • Radiography
  • Renal Artery / abnormalities
  • Renal Artery / diagnostic imaging
  • Syndactyly / diagnostic imaging*
  • Syndrome