一个先天性双侧无眼症家系的临床调查及分析

Congenital bilateral anophthalmia in a Chinese family

目的:对一个罕见的祖孙三代先天性单纯性双侧无眼症家系进行临床分析。方法:通过对先天性单纯性双侧无眼症家系的调查,分析该病的遗传学特征。结果:先证者为男性,其双亲为非近亲结婚,所生育的5个子女中只有先证者患病,先证者女儿也患有此病。该患病女儿与正常男子婚配后妊娠2次,均在孕中期因超声检查提示胎儿双侧无眼而行引产术。结论:该单纯性双侧无眼症家系为常染色体显性遗传,其发病机制待查。

Objective To study the pedigree of a family with congenital bilateral anophthalmia. Methods By sur- veying the occurrence of congenital bilaterial anophthalmia in a family, the inheritance characteristics were defined. Results The proband was a 55-year-old male, and was a product of nonconsanguineous marriage and born at term by normal vaginal delivery. His mother had some medicine taken to induce abortion but was failed at the earlier period of pregnancy. His four siblings were all normal. He had one daughter （nonconsanguineous marriage） who also presented with bilateral anophthalmia. She had twice artificial abortion performed following spontaneous conception （one female, one male） because bilateral anophthalmia of fetus was diagnosed by ultrasound. Conclusins In this three-generation family, congenital bilateral anophthalmia is inherited in an autosomal dominant pattern.