Czeizel A, Kovács M
Am J Med Genet. 1985 May;21(1):105-17. doi: 10.1002/ajmg.1320210115.
The occurrence of specific and nonspecific congenital anomalies was determined in first 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.
对1970年至1979年间出生在匈牙利、通过基于人群的登记系统确诊的先天性膈疝指数患者的一级亲属中特定和非特定先天性异常的发生情况进行了测定。病例分为Bochdalek型（N = 156）、其他类型（N = 26）、未分类类型（N = 55）以及包括先天性膈疝患者在内的多发性先天性异常（MCA）病例（N = 96）。Bochdalek型的同胞发生率为0.9%（若将未分类病例或全部资料考虑在内，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。在全部资料中，1.8%的同胞被检测出患有神经管缺陷，在MCA病例中这一比例为2.4%。
