原发性先天性脑积水是常见的畸形,约占出生婴儿的1‰。X连锁的脑积水是遗传性脑积水中最常见的形式,发病率为2％～7％。患病的男孩智力低下、强直性下肢轻瘫,常伴拇指固定型屈曲及内收。女性携带者不发病。作胎心扫描产前诊断脑积水只能在孕16周以后进行。虽然本病与Xq28连锁已用于遗传咨询,但连锁分析只能用于有明显X连锁 Primary congenital hydrocephalus is a common deformity, accounting for 1 ‰ of the birth of a baby. X-linked hydrocephalus is the most common form of hereditary hydrocephalus, with an incidence of 2% to 7%. Sick boy with mental retardation, ankylosing limb paralysis, often with a fixed thumb flexion and adduction. Female carriers do not get sick. Prenatal diagnosis of fetal heart rate scan hydrocephalus can only be carried out after 16 weeks pregnant. Although the disease and Xq28 chain has been used for genetic counseling, but the chain analysis can only be used to have obvious X chain