| 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: 2013-05-27 |
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 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| 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
Previous Document: A 5-year venom immunotherapy protocol with 50??g maintenance dose: safety and efficacy in school chi...
Next Document: Spo0J regulates the oligomeric state of Soj to trigger its switch from an activator to an inhibitor ...