A new case of Grange syndrome without cardiac findings. uri icon

Overview

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 date

  • June 15, 2006

Research

keywords

  • Abnormalities, Multiple
  • Syndactyly

Identity

Scopus Document Identifier

  • 33744780696

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.31125

PubMed ID

  • 16691574

Additional Document Info

volume

  • 140

issue

  • 12