Morrison P J, Mulholland H C, Craig B G, Nevin N C
Regional Medical Genetics Center, Belfast City Hospital, Northern Ireland.
Am J Med Genet. 1992 Nov 1;44(4):425-8. doi: 10.1002/ajmg.1320440407.
We describe the phenotypic characteristics of 25 individuals with oculo-auriculo-vertebral spectrum (OAVS) and its variants, seen in Northern Ireland between 1969-1989, with special reference to cardiovascular defects. We report the type and prevalence of cardiovascular findings and also estimate the minimum prevalence rate of OAVS to be 1 in 45,000.
我们描述了1969年至1989年间在北爱尔兰发现的25例患有眼-耳-脊椎综合征(OAVS)及其变异型患者的表型特征,特别提及了心血管缺陷。我们报告了心血管检查结果的类型和患病率,并估计OAVS的最低患病率为45000分之一。