一个罕见的远端关节弯曲大家系的调查

发现一个连续遗传 7 代的手足畸型大家系，共计 175 人，有 32人发病，男性 18人，女性 14 人，可疑男性1人，患者表型复杂轻重不一，但双手均对称屈曲畸形，垂直踞骨导致足内翻或外翻。对该病家系成员的生活环境、饮食习惯、婚育史、身体状况、寿命、细胞遗传学等进行调查研究，确定这是一种罕见的远端关节弯曲遗传性疾病。

Report of a Rare Distal Arthrogrophy Large Family

We describe a seven-generation large family with talipomanus and talipes, 175 individuals in this family were involved. 32 affected individuals including 18 males and 14 femals whose clinical features were different and 1 suspicious male were found. The talipomanus were symmetrical, and varus and valgus were caused by vertical talus. We investigated their living environment, the dietary habit, obstetrical history, physical status, lifespan, and studied cytogenetics and so on. We propose these defects were rare distal arthrogrophy genetic disease.