Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL
作者:
Lavínia Schüler,
Francisco M. Salzano,
期刊:
American Journal of Medical Genetics
(WILEY Available online 1994)
卷期:
Volume 49,
issue 1
页码: 29-35
ISSN:0148-7299
年代: 1994
DOI:10.1002/ajmg.1320490108
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: associations between malformations;VACTERL;sirenomelia;multiple malformations
数据来源: WILEY
摘要:
AbstractStarting from a data base of over one million births investigated in 11 countries as a part of the Latin American Study of Congenital Malformations, 1,428 babies with three or more malformations without known pathogenesis or cause were studied. The objective was to search for statistically significant associations between defects and the delineation of new syndromes. One hundred and twentyone patients presented an association between malformations of the digestive and urogenital systems involving mainly anal, renal, and genital anomalies, while 21 of them had 3 or more VACTERL defects. The frequencies of these defects were intermediate between those observed for VACTERL or sirenomelia, supporting the idea that these conditions have a similar pathogenesis. Statistical approaches like this one may be helpful in identifying processes and biological entities that may be missed using simple clinical observations. © 1994 Wiley‐Liss, I
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