Sampson J R, Tolmie J L, Cant J S
Duncan Guthrie Institute of Medical Genetics, University of Glasgow, Scotland.
Am J Med Genet. 1989 Oct;34(2):199-201. doi: 10.1002/ajmg.1320340213.
We describe findings in a 29-year-old woman with Oliver McFarlane syndrome after 25 years of follow-up, and we review findings in six other reported cases. Pigmentary retinal degeneration, trichomegaly, prenatal onset growth failure, anterior pituitary deficiencies, and peripheral neuropathy characterize the condition.
我们描述了一名患有奥利弗·麦克法兰综合征的29岁女性在经过25年随访后的研究结果,并回顾了其他6例已报道病例的研究结果。色素性视网膜变性、睫毛过长、产前生长发育迟缓、垂体前叶功能减退和周围神经病变是该疾病的特征。