一个先天性手指屈曲畸形的家系调查  

Investigation report of a congenital finger Flexion deformity pedigree

作　　者：周凤娟[1] 赵小荣[1] 谢文美[1] 

机构地区：[1]平凉医学高等专科学校,甘肃平凉744000

出　　处：《中国优生与遗传杂志》2012年第10期101-102,共2页Chinese Journal of Birth Health & Heredity

摘　　要：发现一个连续遗传5代的手指屈曲畸形大家系,共计48人,家系中五代22人有手指屈曲畸形,男患者11人,女患者11人。患者表型复杂轻重不一,但双手均对称屈曲畸形,对家系成员的生活环境、饮食习惯、婚育史、细胞遗传学等进行调查,确定该病为遗传性手指屈曲畸形。A continuous 5-generation genetic finger flexion deformity pedigree was found.Among the total of 48 people in this family,there are 22 individuals with finger flexion deformity,11 males and 11 females.Phenotypes of the patients are complex and different,but the hands are symmetrical flexion deformity.Based on the investigation of their living environment,eating habits,obstetrical history,and cytogenetic analysis,we finally come to the conclusion that the disease is genetic finger flexion deformity.

关 键 词：先天性 手指屈曲 畸形 家系调查 

分 类 号：R682.5[医药卫生—骨科学]