Document Detail

Gastrointestinal complications of Russell-Silver syndrome: a pilot study.
MedLine Citation:
PMID:  12400060     Owner:  NLM     Status:  MEDLINE    
Russell-Silver syndrome (RSS) is a genetic syndrome with clinical manifestations of intrauterine and postnatal growth retardation, normal head circumference, body asymmetry, and distinctive facial appearance. We followed an infant diagnosed with RSS who had occurrence of multiple gastrointestinal complications. Although there are a number of published reports describing gastrointestinal problems associated with RSS, specific gastrointestinal diseases have not been recognized as major features. We hypothesize that gastrointestinal complications may be more frequent in RSS cases than previously reported. To address our hypothesis, we developed a pilot study of RSS cases to identify and characterize associated gastrointestinal complications. Surveys were distributed by MAGIC, a support group for individuals with RSS. Surveys included information on the objective and subjective characteristics used to diagnose RSS, as well as descriptions of gastrointestinal problems. Completed surveys were returned on 135 individuals. We used strict diagnostic guidelines to determine affected status of children reported in our survey. Of the 135 surveys completed, 65 were determined to have clear-cut RSS. The diagnoses were made without knowledge of the gastrointestinal symptoms of any of the subjects. Of the 65 subjects with "clear cut" RSS, 50 (77%) had gastrointestinal symptoms. Major specific symptoms included gastroesophageal reflux disease (34%), esophagitis (25%), food aversion (32%), and failure to thrive (63%). A common theme in gastrointestinal complications of RSS is significant gastroesophageal reflux that includes esophagitis and food aversion. Results of this survey suggest that there is an association of gastrointestinal complications with RSS that should be addressed in diagnosis as well as management protocols for children with this condition.
Jeff Anderson; David Viskochil; Molly O'Gorman; Chad Gonzales
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  113     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2002 Nov 
Date Detail:
Created Date:  2002-10-25     Completed Date:  2003-03-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  15-9     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Department of Internal Medicine and Pediatrics, University of North Carolina, Durham, North Carolina 27713, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abnormalities, Multiple / genetics*
Chromosome Aberrations
Fetal Growth Retardation
Gastrointestinal Diseases / epidemiology,  etiology*,  genetics
Infant, Low Birth Weight
Infant, Newborn
Pilot Projects

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Preferential transmission of the MTHFR 677 T allele to infants with Down syndrome: implications for ...
Next Document:  Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy ty...