Halal F, Gervais M H, Baillargeon J, Lesage R
Am J Med Genet. 1982 Feb;11(2):161-76. doi: 10.1002/ajmg.1320110206.
We report the familial occurrence in a French Canadian family of peptic ulcer/hiatal hernia, multiple lentigines/café-au-lait spots, apparent hypertelorism, and myopia caused by a pleiotropic autosomal dominant gene with high penetrance and variable expressivity. Other probable but rarer components of the syndrome include ischemic heart disease, congenital heart disease, and maturity onset diabetes. Symptoms of peptic ulcer/hiatal hernia usually started in the second or third decade and were associated, as least in some examined individuals, with relatively increased acid secretion and abnormal dermatoglyphics.
我们报告了一个法裔加拿大家庭中,由一个具有高外显率和可变表达性的多效常染色体显性基因引起的消化性溃疡/食管裂孔疝、多发性雀斑样痣/咖啡斑、明显眼距过宽和近视的家族性发病情况。该综合征其他可能但较罕见的组成部分包括缺血性心脏病、先天性心脏病和成年起病型糖尿病。消化性溃疡/食管裂孔疝的症状通常始于第二个或第三个十年,并且至少在一些接受检查的个体中,与胃酸分泌相对增加和皮纹异常有关。