翻译一下这段话。。谢谢Introduction:
The brachydactylies are a group of inherited disorders of the hands characterized by shortened often malformed digits.Bell (195 1) classified the brachydactylies into seven types,viz.,A1,A2,A3,B,C,D,and E,and these
have subsequently reclassified by Fitch (1979) into types 1-11.Type A1brachydactyly (BDA 1; MIM 112500) was the first disorder to be described as an autosomal dominant Mendelian trait (Farabee 1903) and is characterized by shortness of the middlc phalangcs of all digits in the hands and feet,shortness of the proximal phalanx of the first digit,and occasional fusion of the middle and terminal phalanges.Between 1907 and 19 15,Drinkwater (1907/8,19 12,19 15) undertook a comprchensive cxamination of
paticnts with BDAl and suggested that shortness of the phalanges was attributable to:(1) the absence of the cpiphyses; (2) a short shaft of the bone; (3) the premature closure of the epiphyses when it was present.Drinkwater(1907/8) noted that affected individuals tended to be of shorter stature in adulthood but presented limited evidence that,as children,BDA1patients tended to be taller than children of comparable age.It was originally thought that Farabee's family and Drinkwater's first kindred were established related; however no connection has been (Haws and McKusick 1963).
Introduction:
The brachydactylies are a group of inherited disorders of the hands characterized by shortened often malformed digits。Bell (1951) classified the brachydactylies into seven types,viz A1,A2,A3,B,C,D,and E,and these have subsequently reclassified by Fitch (1979) into types 1-11。
Type A1brachydactyly (BDA1;MIM112500) was the first disorder to be described as an autosomal dominant Mendelian trait (Farabee 1903) and is characterized by shortness of the middlc phalanges of all digits in the hands and feet,shortness of the proximal phalanx of the first digit,and occasional fusion of the middle and terminal phalanges。
Between 1907 and 1915,Drinkwater (1907/8,1912,1915) undertook a comprchensive cxamination of paticnts with BDAl and suggested that shortness of the phalanges was attributable to:
(1)the absence of the epiphyses;
(2)a short shaft of the bone;
(3)the premature closure of the epiphyses when it was present。
Drinkwater(1907/8) noted that affected individuals tended to be of shorter stature in adulthood but presented limited evidence that,as children,BDA1patients tended to be taller than children of comparable age。It was originally thought that Farabee's family and Drinkwater's first kindred were established related; however no connection has been (Haws and McKusick 1963)。
翻译:
简介:
指过短是一组遗传性疾病的手缩短常畸形的数字。贝尔(1951)将指过短分类分为七种类型,即A1、A2、A3,B,C,D,和E,这些后来被菲奇(1979)重新归类为分类为1-11型。
A1型(指:MIM 112500)被描述为一种常染色体显性遗传性状的第一障碍(门德连法拉比1903),其特点是在手和脚的所有数字的“急促的指骨,第一位近节指骨短小,与中间和终端偶尔的融合。
1907和1915之间,德林克沃特(1907 / 8,1912,1915)进行了一次综合检查患者BDAl提出的指骨短是由于:
(1)对骨骺的缺失;
(2)骨的短轴;
(3)对骨骺过早闭合的时候它是存在的。
德林克沃特(1907 / 8)指出,受影响的个人往往是身材较矮的成年,但有限的证据表明,作为孩子,bda1患者往往要比同等年龄的孩子高。原本以为法拉比的家人和德林克沃特的第一个亲属建立了相关的;但是没有连接联系(山楂、麦库西克1963)。