The spectrum of congenital anomalies of the VATER association: An international study

Autor: Lorenzo D. Botto, Anneli Ruusinen, María Luisa Martínez-Frías, Rolv Skjærven, J. Goujard, Pierpaolo Mastroiacovo, Cynthia A. Moore, Claude Stoll, Paul A.L. Lancaster, Paul Merlob, Barry Borman, Yoshio Sumiyoshi, Andrew E. Czeizel, Muin J. Khoury, Eduardo E. Castilla, Guido Cocchi, Osvaldo M. Mutchinick, Lorentz M. Irgens
Rok vydání: 1997
Předmět:
Zdroj: American Journal of Medical Genetics. 71:8-15
ISSN: 1096-8628
0148-7299
DOI: 10.1002/(sici)1096-8628(19970711)71:1<8::aid-ajmg2>3.0.co;2-v
Popis: The spectrum of the VATER association has been debated ever since its description more than two decades ago. To assess the spectrum of congenital anomalies associated with VATER while minimizing the distortions due to small samples and referral patterns typical of clinical series, we studied infants with VATER association reported to the combined registry of infants with multiple congenital anomalies from 17 birth defects registries worldwide that are part of the International Clearinghouse for Birth Defects Monitoring Systems (ICB-DMS). Among approximately 10 million infants born from 1983 through 1991, the ICB-DMS registered 2,295 infants with 3 or more of 25 unrelated major congenital anomalies of unknown cause. Of these infants, 286 had the VATER association, defined as at least three of the five VATER anomalies (vertebral defects, anal atresia, esophageal atresia, renal defects, and radial-ray limb deficiency), when we expected 219 (P
Databáze: OpenAIRE
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