Document Detail


Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association.
MedLine Citation:
PMID:  21235632     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The goal of this study was to describe a novel pattern of genitourinary (GU) anomalies in VACTERL association,which involves congenital anomalies affecting the vertebrae,anus, heart, trachea and esophagus, kidneys, and limbs.We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Twenty-one percent of patients have GU anomalies, which are more severe (but not more frequent) in females. Anomalies were noted in patients without malformations affecting the renal, lower vertebral, or lower gastrointestinal systems. There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations.
Authors:
Benjamin D Solomon; Manu S Raam; Daniel E Pineda-Alvarez
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Intramural    
Journal Detail:
Title:  Congenital anomalies     Volume:  51     ISSN:  1741-4520     ISO Abbreviation:  Congenit Anom (Kyoto)     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-07-11     Completed Date:  2011-09-13     Revised Date:  2013-07-02    
Medline Journal Info:
Nlm Unique ID:  9306292     Medline TA:  Congenit Anom (Kyoto)     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  87-91     Citation Subset:  IM    
Affiliation:
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892-3717, USA. solomonb@mail.nih.gov
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MeSH Terms
Descriptor/Qualifier:
Anal Canal / abnormalities,  pathology
Esophagus / abnormalities,  pathology
Female
Heart Defects, Congenital / epidemiology*,  pathology
Humans
Kidney / abnormalities,  pathology
Limb Deformities, Congenital / epidemiology*,  pathology
Male
Spine / abnormalities,  pathology
Trachea / abnormalities,  pathology
Urogenital Abnormalities / epidemiology*,  pathology
Grant Support
ID/Acronym/Agency:
Z99 HG999999/HG/NHGRI NIH HHS
Comments/Corrections

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


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