Martínez-Frías M L
ECEMC, Facultad de Medicina, Universidad Complutense de Madrid, Spain.
Am J Med Genet. 1996 Mar 1;62(1):68-70. doi: 10.1002/(SICI)1096-8628(19960301)62:1<68::AID-AJMG14>3.0.CO;2-T.
McCredie and Reid [(1978): J Pediatr 92: 762-765] described an association of diaphragmatic hernia and upper limb deficiencies. Lerone et al. [(1992): Am J Med Genet 44:827-829] recently described a new case with this combination. We present an epidemiological study using two analytic methods with data from the Spanish Collaborative Study of Congenital Malformations (ECEMC). The results support the suggestion that the concurrence of these two congenital anomalies constitutes a polytopic primary developmental field defect.
麦克里迪和里德[(1978年):《儿科学杂志》92卷:762 - 765页]描述了膈疝与上肢缺陷之间的关联。莱罗内等人[(1992年):《美国医学遗传学杂志》44卷:827 - 829页]最近描述了一个具有这种组合的新病例。我们使用两种分析方法,根据西班牙先天性畸形协作研究(ECEMC)的数据进行了一项流行病学研究。结果支持了这两种先天性异常同时出现构成多部位原发性发育场缺陷的观点。