Tsukahara M, Fernandez I, Sugio Y, Shiota K
Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.
Am J Med Genet. 1994 May 15;51(1):13-5. doi: 10.1002/ajmg.1320510104.
We describe a total of 18 individuals, in 3 families, with a median nodule of the upper lip. In family 1, the proposita, an 8-month-old infant girl, was otherwise phenotypically normal except for a median nodule of the upper lip. The proposita's elder brother and mother, both phenotypically normal, also had the similar nodule of the upper lip. On the mother's side, the proposita's greatgrandmother, greatgrandaunt, grandfather, greataunt, two aunts, and one female cousin all had a median nodule of the upper lip. In family 2, the proposita, proposita's mother and maternal grandfather had a median nodule of the upper lip. In family 3, the proposita, proposita's father, paternal grandfather, paternal uncle, and cousin had a median nodule of the upper lip. Analysis of 3 families indicates that the condition is an autosomal dominant trait.
我们描述了来自3个家族的总共18名个体，他们都有上唇正中结节。在家族1中，先证者是一名8个月大的女婴，除上唇正中结节外，表型正常。先证者的哥哥和母亲表型均正常，但也有类似的上唇结节。在先证者母亲一方，其曾祖母、姑奶奶、祖父、姨婆、两位姨妈和一位堂姐都有上唇正中结节。在家族2中，先证者、先证者的母亲和外祖父都有上唇正中结节。在家族3中，先证者、先证者的父亲、祖父、叔叔和堂兄都有上唇正中结节。对3个家族的分析表明，该病症为常染色体显性性状。
