Ohishi M, Kai S, Ozeki S, Tashiro H
First Department of Oral Surgery, Faculty of Dentistry, Kyushu University, Fukuoka, Japan.
Am J Med Genet. 1991 Jan;38(1):13-5. doi: 10.1002/ajmg.1320380104.
A male patient with alveolar synechia and ankyloblepharon filiforme adnatum is reported. He also had bilateral commissural lip pits, inferiorly attached frenulum, generalized hypoplastic nails, and wooly scalp hair. He was a product of consanguineous parents. The disease seemed to be an autosomal recessive syndrome with heterozygote expression.
报告了一名患有肺泡粘连和先天性丝状睑缘粘连的男性患者。他还患有双侧口角唇凹、下唇系带附着过低、全身性指甲发育不全和头皮毛发呈羊毛状。他是近亲结婚父母的后代。该疾病似乎是一种具有杂合子表达的常染色体隐性综合征。