A FAMILY STUDY OF CONGENITAL DIAPHRAGMATIC DEFECTS
A FAMILY STUDY OF CONGENITAL DIAPHRAGMATIC DEFECTS
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DOI：
10.1002/ajmg.1320210115
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发表时间：
1985-01-01
期刊：
影响因子：
--
通讯作者：
KOVACS, M
中科院分区：
文献类型：
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作者：
CZEIZEL, A;KOVACS, M
特异性和非特异性先天性异常的发生率是在1970年至1979年出生于匈牙利的先天性脑血管缺陷索引患者的一级亲属中确定的，并通过基于人群的登记研究确定。其中Bochdalek型156例，其他型26例，未分类型55例，多先天性异常（MCA）96例。Bochdalek型的同胞发生率为0.9%（考虑到未分类病例或总材料，分别为0.5%或0.4%）。在其他类型中未发现特定的家族聚集性。神经管缺陷检出率为1.8%的同胞和2.4%的大脑中动脉病例。
The occurrence of specific and nonspecific congenital anomalies was determined in 1st degree relatives of index patients with congenital diaphragmatic defects who were born in Hungary between 1970 and 1979 and were ascertained through a population-based registry. The cases were grouped into Bochdalek types (n = 156), other types (n = 26), unclassified types (n = 55) and multiple congenital anomalies (MCA) cases including those with congenital diaphragmatic defects (n = 96). The sib occurrence in the Bochdalek type was 0.9% (taking into consideration also the unclassified cases or the total material, it was 0.5% or 0.4%, respectively). Specific familial clusters were not found in other types. Neural tube defects were detected in 1.8% of sibs in the total material and 2.4% in MCA cases.