Hill R D
J Med Genet. 1977 Feb;14(1):33-6. doi: 10.1136/jmg.14.1.33.
Two individuals showing features typical of the autosomal recessive Ellis-van Creveld syndrome have been diagnosed in a population of 1340 individuals living on a small island off the west coast of Scotland. Clinical features and family relationships of the affected individuals are described.
在生活在苏格兰西海岸一个小岛上的1340人的群体中,诊断出两名具有常染色体隐性埃-范二氏综合征典型特征的个体。文中描述了这些受影响个体的临床特征和家庭关系。