Bendon R W, Siddiqi T, de Courten-Myers G, Dignan P
Department of Pathology and Laboratory Medicine, College of Medicine, University of Cincinnati, Ohio 45267-0529.
Am J Med Genet Suppl. 1987;3:357-65. doi: 10.1002/ajmg.1320280541.
We present 2 examples of previously apparently undescribed congenital anomalies that recurred in a subsequent pregnancy. In one case this was a multiple-congenital-anomalies syndrome of hydranencephaly with multinucleated neurons, hypoplastic kidneys, and syndactyly of the second and third toes. The second case involved atrioventricular valve thickening resulting in tricuspid insufficiency and mitral stenosis. These cases suggest that if after a complete autopsy the findings are unprecedented, then the recurrent risk in a subsequent pregnancy may be high. This hypothesis has not been tested prospectively.
我们展示了2例先前明显未被描述过的先天性异常病例，这些异常在随后的妊娠中再次出现。其中1例是无脑积水合并多核神经元、肾发育不全以及第二和第三趾并指的多先天性异常综合征。另一例是房室瓣增厚导致三尖瓣关闭不全和二尖瓣狭窄。这些病例表明，如果在进行全面尸检后发现的情况是前所未有的，那么随后妊娠中的复发风险可能很高。这一假设尚未经过前瞻性检验。
