Document Detail

Familial occurrence of the VATER/VACTERL association.
MedLine Citation:
PMID:  22422375     Owner:  NLM     Status:  Publisher    
The acronym VATER/VACTERL association is used to describe the non-random co-occurrence of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheo-esophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). We report a familial case of VATER/VACTERL association in which both the index case and her maternal uncle displayed four major component features of the disorder. A systematic literature search identified 12 previously described familial cases. However, on comparison, both members fulfilled the diagnostic criteria for VATER/VACTERL association only in one instance, and ours is the second such report. Although, a SNP array-based analysis identified no causal genomic alteration, the findings in the present family suggest that genetic factors are implicated in the development of the disorder.
Alina Hilger; Charlotte Schramm; Markus Draaken; Sadaf S Mughal; Gabriel Dworschak; Enrika Bartels; Per Hoffmann; Markus M Nöthen; Heiko Reutter; Michael Ludwig
Related Documents :
11202325 - Pyknodysostosis--a report of two cases with a brief review of the literature.
3308955 - Gastroenteritis, sepsis, and osteomyelitis caused by plesiomonas shigelloides in an imm...
3131055 - Pseudomonas aeruginosa as a causative agent of cervical osteomyelitis. case report and ...
12004185 - Nocardia farcinica spinal osteomyelitis.
22052415 - Vomiting-induced gastric emphysema: a rare self-limiting condition.
691095 - Sinogenic and otogenic brain abscesses--a review of 63 cases occurring at toronto gener...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-3-16
Journal Detail:
Title:  Pediatric surgery international     Volume:  -     ISSN:  1437-9813     ISO Abbreviation:  -     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-3-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8609169     Medline TA:  Pediatr Surg Int     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Institute of Human Genetics, University Hospital of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

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

Previous Document:  Nitrogen-Doped Porous Carbon Nanofiber Webs as Anodes for Lithium Ion Batteries with a Superhigh Cap...
Next Document:  Efficient Intracellular Delivery of Camptothecin by Silica/Titania Hollow Nanoparticles.