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Developmental field defects and associations: Epidemiological evidence of their relationship

 

作者: M. L. Martínez‐Frías,  

 

期刊: American Journal of Medical Genetics  (WILEY Available online 1994)
卷期: Volume 49, issue 1  

页码: 45-51

 

ISSN:0148-7299

 

年代: 1994

 

DOI:10.1002/ajmg.1320490110

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: DFD;associations;diabetic embryopathy;chromosomal abnormalities;mendelian conditions;MCA patterns

 

数据来源: WILEY

 

摘要:

AbstractLubinsky [1986: Am J Med Genet 2:9–16] has defined associations as derivatives of causally nonspecific disruptive events acting on developmental fields. Opitz [1992: Second International Workshop on Fetal Genetic Pathology]considers developmental fields as the basic biologic units of individual development and of evolution, and has stated that associations represent the idiopathic occurrence of multiple congenital anomalies during blastogenesis. These concepts imply that associations represent the concurrence of a greater number of developmental field defects (DFDs) than other patterns of multiple anomalies.The coding system for children with multiple congenital anomalies, developed in the Spanish Collaborative Study of Congenital Malformations (ECEMC), permits analysis of DFDs as morphogenetic units. Thus, we can study their presence in any type of MCA pattern, regardless of its etiology.Here we present the analysis of a selected group of DFDs of blastogenic origin. Specifically, we have studied how the groups of defects, usually comprised in those specifics DFDs, are observed in children who present different clinical entities such as associations, embryopathies, syndromes of known etiology, and others. The results of our analysis show a greater concurrence of the selected DFDs in associations than in other MCA pattern, and support the concept of Lubinsky [1985: Am J Med Genet 21:35–38; 1986] and Opitz [1992]. © 1994 Wiley‐Lis

 

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