Document Detail


VATER--tibia aplasia association: report on two patients.
MedLine Citation:
PMID:  12401995     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report two patients with oesophageal atresia, tracheo-oesophageal fistula and unilateral tibial aplasia. The karyotype in both patients was normal and both cases were sporadic. The congenital defects of the children can be regarded as an uncommon variant of VA(C)TER(L) association. Recently Basel and Goldblatt [(2000) Clin Dysmorphol 9:205-208] reported a similar patient with a VATER-tibia aplasia association.
Authors:
Liesbeth Spruijt; Koen Devriendt; Jos Offermans; Sjoerd Bulstra; Connie Schrander-Stumpel
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  11     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2002 Oct 
Date Detail:
Created Date:  2002-10-28     Completed Date:  2003-03-12     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  283-7     Citation Subset:  IM    
Affiliation:
Departments of Clinical Genetics, University Hospital Leuven, Leuven, Belgium.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / pathology*
Ear / abnormalities
Esophageal Atresia / pathology*
Facies
Foot Deformities, Congenital / pathology
Hand Deformities, Congenital / pathology
Humans
Infant
Male
Retrognathism / pathology
Tibia / abnormalities*
Tracheoesophageal Fistula / pathology*

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


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