title: Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS).
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.
authors.affiliation: Tornblad Institute, University of Lund, Sweden.
authors.forename: Karin
authors.initials: K
authors.lastname: Källén
authors.affiliation: Institut Européen des Génomutations Création de GROUPAMA, Lyon, France.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Robert
authors.affiliation: ECLAMC: Latin-American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects at Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil (EEC), and at CEMIC: Centro de Educación Médica e Investigaciones Clinicas, Buenos Aires, Argentina (EEC).
authors.forename: Eduardo E
authors.initials: EE
authors.lastname: Castilla
authors.affiliation: IPIMC, Servizio Epidemiologia e Clinica Difetti Congeniti, Policlinico Universitario A. Gemelli, Rome, Italy.
authors.forename: Pierpaolo
authors.initials: P
authors.lastname: Mastroiacovo
authors.affiliation: Tornblad Institute, University of Lund, Sweden.
authors.forename: Bengt
authors.initials: B
authors.lastname: Källén
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology* / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D004812:Epidemiologic Methods; D005124:Eye Abnormalities / Q000453:epidemiology / Q000235:genetics; D006053:Goldenhar Syndrome / Q000453:epidemiology*; D006801:Humans; D007223:Infant; D013131:Spine / Q000002:abnormalities; D013577:Syndrome