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先天性眼球畸形,多合并其它眼组织的先天性异常和视力低下,但多并有小角膜,白内障,高度远视或高度近视,以及眼球震颤等,甚至合并全身其它部位的先天性畸形。毕华德氏(1929)最早报告小眼球与高度近视,后潘作新氏(1932)、邓国金氏(1932)、王氏(1932),邓桢氏(1938)、孙焕氏(1951)和冯葆华氏(1959)相继报导,但都为散发病例。任惠石氏(1980)报告一家族三代连续患病,系属常染色体显性遗传,我们现遇一家族同代9人中三人患病,经随访发现其父母为堂兄妹婚姻,遗传
Congenital ocular deformity, combined with other ocular congenital anomalies and poor vision, but more and there are small corneas, cataracts, hyperopia or high myopia, and nystagmus, and even the other parts of the body with congenital malformations. Bi Hua De Shi (1929) first reported small eyeball and high myopia, after Pan Zuoxin (1932), Deng Gujin (1932), Wang (1932), Deng Zhen’s (1938), Sun Huanzhi (1951) and Feng Bao Fahrenheit (1959) have been reported, but all sporadic cases. Ren Hui Shi (1980) reported a family of three consecutive illnesses, is an autosomal dominant inheritance, we encounter a family of 9 people in the same period three of the disease, followed up and found their parents cousins marriage, genetic