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Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS).

Källén, Karin LU ; Robert, Elisabeth; Castilla, Eduardo E; Mastroiacovo, Pierpaolo and Källén, Bengt LU (2004) In American Journal of Medical Genetics. Part A 127A(1). p.26-34
Abstract
Using a statistical methodology, we aimed to identify a group of probable cases of oculo-auriculo-vertebral (OAV) dysplasia and to investigate possible relationships between different patterns of congenital malformations. Among 5,260 infants with multiple malformations collected from 4 large registers of congenital malformations, we identified 312 probable OAV cases. With the same technique, we have earlier defined epidemiological delineations of three other well-known non-random associations of congenital malformations (CHARGE, VATER, and OEIS). We found convincing relationships between OAV and VATER or CHARGE but none between OAV and OEIS or between the three malformation complexes CHARGE, VATER, and OEIS. An association between two... (More)
Using a statistical methodology, we aimed to identify a group of probable cases of oculo-auriculo-vertebral (OAV) dysplasia and to investigate possible relationships between different patterns of congenital malformations. Among 5,260 infants with multiple malformations collected from 4 large registers of congenital malformations, we identified 312 probable OAV cases. With the same technique, we have earlier defined epidemiological delineations of three other well-known non-random associations of congenital malformations (CHARGE, VATER, and OEIS). We found convincing relationships between OAV and VATER or CHARGE but none between OAV and OEIS or between the three malformation complexes CHARGE, VATER, and OEIS. An association between two conditions indicates similarities in pathogenesis or in etiology. We suggest that the connection between OAV and CHARGE could be related to a common pathogenetic mechanism: disturbed neural crest development. (C) 2003 Wiley-Liss, Inc. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
malformation registries, epidemiology, multiple malformations
in
American Journal of Medical Genetics. Part A
volume
127A
issue
1
pages
26 - 34
publisher
John Wiley & Sons
external identifiers
  • wos:000221179700006
  • pmid:15103713
  • scopus:3142666855
ISSN
1552-4825
DOI
10.1002/ajmg.a.20643
language
English
LU publication?
yes
id
3baeb6a1-4e79-449c-9489-c9c5e4a4b683 (old id 122463)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15103713&dopt=Abstract
date added to LUP
2007-07-20 09:17:46
date last changed
2017-09-10 03:38:34
@article{3baeb6a1-4e79-449c-9489-c9c5e4a4b683,
  abstract     = {Using a statistical methodology, we aimed to identify a group of probable cases of oculo-auriculo-vertebral (OAV) dysplasia and to investigate possible relationships between different patterns of congenital malformations. Among 5,260 infants with multiple malformations collected from 4 large registers of congenital malformations, we identified 312 probable OAV cases. With the same technique, we have earlier defined epidemiological delineations of three other well-known non-random associations of congenital malformations (CHARGE, VATER, and OEIS). We found convincing relationships between OAV and VATER or CHARGE but none between OAV and OEIS or between the three malformation complexes CHARGE, VATER, and OEIS. An association between two conditions indicates similarities in pathogenesis or in etiology. We suggest that the connection between OAV and CHARGE could be related to a common pathogenetic mechanism: disturbed neural crest development. (C) 2003 Wiley-Liss, Inc.},
  author       = {Källén, Karin and Robert, Elisabeth and Castilla, Eduardo E and Mastroiacovo, Pierpaolo and Källén, Bengt},
  issn         = {1552-4825},
  keyword      = {malformation registries,epidemiology,multiple malformations},
  language     = {eng},
  number       = {1},
  pages        = {26--34},
  publisher    = {John Wiley & Sons},
  series       = {American Journal of Medical Genetics. Part A},
  title        = {Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS).},
  url          = {http://dx.doi.org/10.1002/ajmg.a.20643},
  volume       = {127A},
  year         = {2004},
}