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The spectrum of congenital anomalies of the VATER association: An international study
American journal of medical genetics, 1997-07, Vol.71 (1), p.8-15
Botto, Lorenzo D.
Khoury, Muin J.
Mastroiacovo, Pierpaolo
Castilla, Eduardo E.
Moore, Cynthia A.
Skjaerven, Rolv
Mutchinick, Osvaldo M.
Borman, Barry
Cocchi, Guido
Czeizel, Andrew E.
Goujard, Janine
Irgens, Lorentz M.
Lancaster, Paul A. L.
Martínez-Frías, María Luisa
Merlob, Paul
Ruusinen, Anneli
Stoll, Claude
Sumiyoshi, Yoshio
1997
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Botto, Lorenzo D.
Khoury, Muin J.
Mastroiacovo, Pierpaolo
Castilla, Eduardo E.
Moore, Cynthia A.
Skjaerven, Rolv
Mutchinick, Osvaldo M.
Borman, Barry
Cocchi, Guido
Czeizel, Andrew E.
Goujard, Janine
Irgens, Lorentz M.
Lancaster, Paul A. L.
Martínez-Frías, María Luisa
Merlob, Paul
Ruusinen, Anneli
Stoll, Claude
Sumiyoshi, Yoshio
Titel
The spectrum of congenital anomalies of the VATER association: An international study
Ist Teil von
American journal of medical genetics, 1997-07, Vol.71 (1), p.8-15
Ort / Verlag
New York: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
1997
Quelle
MEDLINE
Beschreibungen/Notizen
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 (ICBDMS). Among approximately 10 million infants born from 1983 through 1991, the ICBDMS 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 <0.001). Of these 286 infants, 51 had at least four VATER anomalies, and 8 had all five anomalies. We found that preaxial but not other limb anomalies were significantly associated with any combination of the four non‐limb VATER anomalies (P<0.001). Of the 286 infants with VATER association, 214 (74.8%) had additional defects. Genital defects, cardiovascular anomalies, and small intestinal atresias were positively associated with VATER association (P<0.001). Infants with VATER association that included both renal anomalies and anorectal atresia were significantly more likely to have genital defects. Finally, a subset of infants with VATER association also had defects described in other associations, including diaphragmatic defects, oral clefts, bladder exstrophy, omphalocele, and neural tube defects. These results offer evidence for the specificity of the VATER association, suggest the existence of distinct subsets within the association, and raise the question of a common pathway for patterns of VATER and other types of defects in at least a subset 1997 of infants with multiple congenital anomalies. Am. J. Med. Genet. 71:8–15, 1997. © 1997 Wiley‐Liss, Inc. This article was prepared by a group consisting of both United States government employees and non‐United States government employees, and as such is subject to 17 U.S.C. Sec. 105.
Sprache
Englisch
Identifikatoren
ISSN: 0148-7299
eISSN: 1096-8628
DOI: 10.1002/(SICI)1096-8628(19970711)71:1<8::AID-AJMG2>3.0.CO;2-V
Titel-ID: cdi_proquest_miscellaneous_79111787
Format
–
Schlagworte
Abnormalities, Multiple - epidemiology
,
Anal Canal - abnormalities
,
Biological and medical sciences
,
Complex syndromes
,
epidemiology
,
Esophagus - abnormalities
,
Female
,
Humans
,
Infant, Newborn
,
Kidney - abnormalities
,
Limb Deformities, Congenital
,
Male
,
malformation
,
Medical genetics
,
Medical sciences
,
multiple congenital anomalies
,
Registries
,
Spine - abnormalities
,
Syndrome
,
VATER
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