Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS).
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/122463
- author
- Källén, Karin LU ; Robert, Elisabeth ; Castilla, Eduardo E ; Mastroiacovo, Pierpaolo and Källén, Bengt LU
- organization
- publishing date
- 2004
- 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 Inc.
- 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
- 2016-04-01 11:57:37
- date last changed
- 2022-03-28 18:12:10
@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}}, keywords = {{malformation registries; epidemiology; multiple malformations}}, language = {{eng}}, number = {{1}}, pages = {{26--34}}, publisher = {{John Wiley & Sons Inc.}}, 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}}, doi = {{10.1002/ajmg.a.20643}}, volume = {{127A}}, year = {{2004}}, }