Czeizel A
Department of Human Genetics and Teratology, National Institute of Hygiene, Budapest, Hungary.
Am J Med Genet Suppl. 1986;2:17-21. doi: 10.1002/ajmg.1320250604.
A population-based unselected registry material involving 1,038 unidentified multiple congenital anomalies had 16 unrelated cases with polycystic kidney and congenital cardiovascular malformation. The syntropy index of this combination was 4. The family study detected one specific and two half-concordant sib occurrences. The so-called "polycystic kidney and cardiovascular malformation" association with variable expression may be a MCA entity.
一项基于人群的未筛选登记资料，涉及1038例不明原因的多发先天性畸形，其中有16例无关病例患有多囊肾和先天性心血管畸形。这种组合的同发性指数为4。家系研究发现了1例特定病例和2例半一致的同胞病例。这种具有可变表达的所谓“多囊肾与心血管畸形”关联可能是一种多发先天性畸形实体。
