Hennekam R C, Holtus F J
Institute of Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Am J Med Genet. 1993 Oct 1;47(5):714-6. doi: 10.1002/ajmg.1320470526.
We describe a mother and son with facial nerve palsy, multiple truncal café-au-lait spots, and mild developmental delay. The mother also had hyposmia, increased tendency to caries, and growth retardation, and the son hypotrichosis, hearing loss, and microtia. This apparently autosomal dominant disorder was described first by Johnson et al. [1983: Am J Med Genet 15:497-506] and Johnston et al. [1987: Am J Med Genet 26:925-927].
我们描述了一位患有面神经麻痹、多处躯干咖啡牛奶斑和轻度发育迟缓的母亲和儿子。母亲还存在嗅觉减退、龋齿倾向增加和生长发育迟缓的情况，而儿子则有毛发稀少、听力丧失和小耳畸形。这种明显的常染色体显性疾病最早由约翰逊等人[1983年：《美国医学遗传学杂志》15:497 - 506]以及约翰斯顿等人[1987年：《美国医学遗传学杂志》26:925 - 927]进行了描述。
