| Long-term outcomes of adults with features of VACTERL association. | |
| | |
MedLine Citation:
|
PMID: 20888933 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
VACTERL association involves the presence of specific congenital, multi-organ malformations that tend to co-occur. Clinical and research efforts typically center on pediatric patients, and there is a scarcity of information in the literature regarding VACTERL-related issues and outcomes in adulthood. We describe here 11 adults with features of VACTERL association ascertained through our research study on the condition. In our cohort of adult patients, approximately 25% of medically significant malformations that are component features of VACTERL association, including 40% of vertebral, 50% of cardiac, and 50% of renal anomalies, were not identified during childhood. Additionally, medical sequelae of many of the primary malformations identified in infancy or early childhood persist or are first reported in adulthood. These sequelae can involve challenging medical and surgical management in adulthood. As most adults with VACTERL association are not specifically followed for VACTERL-related issues, a more uniform diagnostic work-up and a low threshold for investigation of medical sequelae of the primary disorder may enhance the quality of clinical management in these patients. |
| | |
Authors:
|
Manu S Raam; Daniel E Pineda-Alvarez; Donald W Hadley; Benjamin D Solomon |
Related Documents
:
|
15734013 - Medication use and retinal vessel diameters. 17291673 - Hyperventilation following aero-medical rapid sequence intubation may be a deliberate r... 11828833 - Co-prescribing of medications used to treat obstructive lung disease, congestive heart ... |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't Date: 2010-10-01 |
Journal Detail:
|
Title: European journal of medical genetics Volume: 54 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2011 Jan-Feb |
Date Detail:
|
Created Date: 2011-02-28 Completed Date: 2011-06-14 Revised Date: 2012-01-04 |
Medline Journal Info:
|
Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
|
Languages: eng Pagination: 34-41 Citation Subset: IM |
Copyright Information:
|
Published by Elsevier Masson SAS. |
Affiliation:
|
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1B207, 35 Convent Drive MSC 3717, Bethesda, MD 20892-3717, USA. raamm@ccf.org |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
pathology* Adult Anal Canal / abnormalities* Cohort Studies Esophagus / abnormalities* Female Heart Defects, Congenital / pathology* Humans Kidney / abnormalities* Limb Deformities, Congenital / pathology Male Middle Aged Spine / abnormalities* Time Factors Trachea / abnormalities |
| Grant Support | |
ID/Acronym/Agency:
|
Z99 HG999999/HG/NHGRI NIH HHS; //Howard Hughes Medical Institute |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Neuropathy in Wolfram syndrome.
Next Document: de novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.