Document Detail

A new case of Grange syndrome without cardiac findings.
MedLine Citation:
PMID:  16691574     Owner:  NLM     Status:  MEDLINE    
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.
Robert Wallerstein; Ann Marie Augustyn; Donna Wallerstein; Leslie Elton; Beatriz Tejeiro; Valerie Johnson; Kenneth Lieberman
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  140     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2006 Jun 
Date Detail:
Created Date:  2006-05-31     Completed Date:  2006-08-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1316-20     Citation Subset:  IM    
Copyright Information:
Copyright 2006 Wiley-Liss, Inc.
Genetics Service, Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, New Jersey 07601, USA.
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MeSH Terms
Abnormalities, Multiple / pathology*
Bone Diseases, Metabolic / genetics
Child, Preschool
Heart Defects, Congenital
Hypertension, Renovascular / complications
Learning Disorders / genetics
Renal Artery / abnormalities,  radiography
Syndactyly / radiography*

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