【医学课件大全】21-三体综合征.pptVIP

21-三体综合征 孙树萍 21-三体综合征 21-三体综合征 21-三体综合征 21-三体综合征 21-三体综合征 21-三体综合征 21-三体综合征 21-三体综合征 21-trisomy syndrome 21-三体综合征 21-trisomy syndrome  21-三体综合征 21-trisomy syndrome  21-三体综合征 21-trisomy syndrome 21-三体综合征 21-trisomy syndrome * * 第八章第二节 包头医学院第二附属医院 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) 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) 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. ) 特殊面容 characteristic facies 智能低下 intelligence disability 发育迟缓 developmental retardation： 四肢短 short extremities 韧带松弛 laxity of ligament ?皮纹特征 dermatoglyph characteristics ?皮纹特征 dermatoglyph characteristics ?皮纹特征 dermatoglyph characteristics ?典型表现录象 record 诊断 核型分析 karyotype analysis 鉴别诊断 differential diagnosis 先天性甲状腺功能减低症congenital hypothyroi