Ives E J, Houston C S
Am J Med Genet. 1980;7(3):351-60. doi: 10.1002/ajmg.1320070317.
In a highly consanguineous, predominantly Cree Indian community in northern Saskatchewan, Canada, 14 similarly malformed babies have been born to eight different mothers since 1953. Six of these infants are reported to assist delineation of the syndrome. The major manifestations of the condition are: Intrauterine growth retardation, perinatal death, marked microcephaly, and severe malformations of the limbs, especially the arms. Elbows are fused, forearms are greatly shortened and usually contain only a single bone, and the hands are very abnormal with only two to four malformed digits. Parental consanguinity, a sex ratio close to one, and a 25% segregation ratio all support autosomal recessive inheritance of this syndrome.
在加拿大萨斯喀彻温省北部一个高度近亲通婚、主要为克里印第安人的社区，自1953年以来，8位不同的母亲生下了14名畸形相似的婴儿。据报道，其中6名婴儿有助于该综合征的描述。该病症的主要表现为：宫内生长迟缓、围产期死亡、明显小头畸形以及四肢严重畸形，尤其是手臂。肘部融合，前臂大幅缩短且通常仅含一根骨头，手部严重异常，仅有两到四根畸形手指。父母近亲通婚、性别比接近1以及25%的分离比均支持该综合征的常染色体隐性遗传。
