(精选)【医学课件大全】21-三体综合征教学课件.pptVIP

第八章第二节 包头医学院第二附属医院 21-三体综合征 孙树萍 21-三体综合征 我国每年大约有26,600个唐氏综合征患儿出生，平均每20分钟就有1例出生，估计我国现有病人60万以上(26,600 town syndromes occur in one year,one is born every 20 minutes,above 600,0000 in our country. ) 发病率约占新生儿的1/750，此征是引起先天智力障碍最常见的染色体病( Incidence of 1 in 750 newborns,it is the most common chromosome disease causing congenital Intelligence disturbance) 本病与单基因遗传病的一个重要区别就是，它是偶发的，每个孕妇都有生患儿的可能(Different with single gene disease,it is accidental and every pregnant woman has a chance to conceive this fetus.) 我国每出生一例唐氏综合征患儿大约造成25万元人民币的社会经济负担。(250,000 RMB is needed to bring up one patient) 21-三体综合征 21-三体综合征 了解本病的细胞遗传学与遗传学咨询 (To understand cytogenetics and genetic counselling) 掌握本病的临床特征及诊断 (To master symptoms ,signs and diagnosis) 了解本病的鉴别诊断 (To understand differential diagnosis) 21-三体综合征 特殊面容 characteristic facies 智能低下 mental disability 生长发育迟缓；并可伴有多种畸形。 什么是智能低下？ What is mental disability? 答：指大脑发育障碍引起的综合性功能不全，包括认知、记忆、理解、运动、言语、综合分析、思维、想象。( Answer: Malfunction caused by developmental disorder of cerebrum includes cognition,memory, understanding, motion, words, comprehensive analysis, thought and imagination.) 小儿智能低下指18岁以下脑发育年龄的智力明显低于同年龄儿童平均水平，伴社会适应智力缺陷。即智商（IQ）低于同龄儿均值（100）减2个SD，100-2×15亦即＜70。18岁以后智力衰退称痴呆。（廖清奎《临床儿科学》P447）(Under age 18,IQM-2SD. After age 18,intelligence diminution is called dementia. ) 21-三体综合征 特殊面容 characteristic facies 智能低下 intelligence disability 21-三体综合征 发育迟缓 developmental retardation： 四肢短 short extremities 韧带松弛 laxity of ligament * *