CLINICAL EPIDEMIOLOGICAL ANALYSIS OF MALFORMATIONS

被引：29
作者：
MARTINEZFRIAS, ML
FRIAS, JL
SALVADOR, J
机构：
[1] UNIV NEBRASKA,MED CTR,DEPT PEDIAT,42ND & DEWEY AVE,OMAHA,NE 68105
[2] UNIV COMPLUTENSE MADRID,FAC MED,ESTUDIO COLABORAT ESPANOL MALFORMAC CONGENITAS,MADRID 3,SPAIN
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 01期
关键词：
Epidemiology; Etiology; Malformations; Pathogenesis;
D O I：
10.1002/ajmg.1320350123
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
To investigate the heterogeneity of congenital malformations, we analyzed the distribution of 14 selected anomalies among 11,421 children with isolated defects and with different patterns of multiple congenital anomalies (MCA). Our study showed a marked variability in the distribution of each of these malformations. For example, although anophthalmia/microphthalmia, cleft palate, and limb deficiency were observed in all etiological categories of syndromes, no case with anencephaly was identified among the 1,244 children with different syndromes. Diaphrahmatic hernia, esophageal atresia ± tracheo-esophageal fistula, and gastroschisis were not found in any monogenic syndrome in this sample. These observations may be of help to the clinician in the evaluation of individual children with MCA.
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页码：121 / 125
页数：5
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