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华西医大与四川省计划生育研究所于1986～1987年在四川省1116.6万框架人群中,对11个地、市、州城乡42个调查点(包括4个少数民族调查点)进行了一次多学科、多疾病、多指标的横断面现症患者的平面流调,在126876人中共有0～14岁儿童34157人,经三级筛查,共检出数十种遗传有关疾病,其中患病率较高的有:精神发育迟缓56.3/万,腹股沟斜疝41.9/万,先天性心脏病39.0/万,隐睾30.6/万,原发性癫痫24.7/万,鱼鳞病21.4/万,多指趾17.9/万,唇、腭裂12.0/万,耳聋11.0/万,继发性癫痫10.8/万,耳廓畸形6.7/万,先天性聋哑症3.5/万,先天性眼球震颤4.2/万,先天性白内障4.2/万,先天性髋关节脱位2.9/万,神经纤维瘤病2.8/万,唐氏综合征2.6/万,小头畸形1.8/万等。另外内毗赘皮241.0/万,耳前瘘管68.3/万,共转性斜视30.6/万。
Huaxi Medical University and Sichuan Institute of Family Planning conducted a multidisciplinary study of 42 investigation points (including 4 ethnic minority investigation points) in 11 urban and rural areas of 11 prefectures, cities and prefectures in 11,166,000 frame population in Sichuan Province from 1986 to 1987 , Multi-disease, multi-index cross-sectional surface of patients with flat flow control, a total of 126876 people aged 34 children aged 0 to 14, after screening, detected a dozen genetic diseases, of which the prevalence High are: mental retardation 56.3 / million, inguinal hernia 41.9 / million, congenital heart disease 39.0 / million, cryptorchidism 30.6 / million, primary epilepsy 24.7 / million, ichthyosis 21.4 / million, multi-fingered 17.9 / million, lip, cleft palate 12.0 / million, deafness 11.0 / million, secondary epilepsy 10.8 / million, auricular deformity 6.7 / million, congenital deafness 3.5 / million, congenital nystagmus 4.2 / million, congenital Cataracts 4.2 / million, congenital hip dislocation 2.9 / million, neurofibromatosis 2.8 / million, Down’s syndrome 2.6 / million, malformations, such as 1.8 / million. Another within the epicanthosis 241.0 / million, ear before the fistula 68.3 / million, a total of 30.6 / million strabismus strabismus.