Crawfurd M D, Harcourt R B, Shaw P A
J Med Genet. 1979 Oct;16(5):373-8. doi: 10.1136/jmg.16.5.373.
A family is reported in which a brother and sister both showed non-progressive cerebellar ataxia, aplasia of the pupillary zone of the iris, and mild mental subnormality. These clinical findings were similar to those in two previous case reports. Despite the birth of an affected son to the affected sister, this family is considered to confirm autosomal recessive inheritance of this syndrome. The paternity of the mother's husband is supported by blood groups and biochemical markers and it is presumed that the husband is a heterozygote, even though no consanguinity could be detected.
据报道，有一个家庭，其中的兄妹均表现出非进行性小脑共济失调、虹膜瞳孔区发育不全以及轻度智力低下。这些临床发现与之前的两份病例报告中的情况相似。尽管患病的妹妹生育了一个患病儿子，但该家庭仍被认为证实了此综合征的常染色体隐性遗传。母亲丈夫的父亲身份通过血型和生化标记得以证实，且据推测丈夫是杂合子，尽管未检测到近亲关系。
