Stoll C, Alembik Y, Truttmann M
Institut de Puériculture, Strasbourg, France.
Ann Genet. 1996;39(4):193-6.
A 22-year-old man had polyneuropathy, facial dysmorphia, atopia and multiple lipomatosis. His mother had neuropathy but not lipomatosis as two of her first cousins. The proband's grandmother had multiple lipomatosis as her own mother and a sister of her mother, but they didn't have neuropathy. This family is an example of a dominant syndrome the principle features of which are polyneuropathy. Variable expression could account for the phenotypic differences, combined with multiple lipomatosis.
一名22岁男性患有多发性神经病、面部畸形、共济失调和多发性脂肪瘤病。他的母亲患有神经病，但没有脂肪瘤病，她的两个表亲也是如此。先证者的祖母有多发性脂肪瘤病，她自己的母亲和母亲的一个姐妹也有，但她们没有神经病。这个家族是一种显性综合征的例子，其主要特征是多发性神经病。可变表达可能是导致表型差异的原因，同时伴有多发性脂肪瘤病。
