摘要
目的：探讨先天性家族性指关节融合症的遗传方式，了解其发病规律。方法：实地调察与临床诊断相结合，并进行系谱分析。结果：家系中46人有23位受累，发病率为50%。男女发病机会一致。连续6代都有患者。患者出现的症状轻重不一。结论：先天性家族性指关节融合症系谱为常染色体显性遗传。该致病基因有表现度不一致的现象。
Obiective:To probe into the manner of inheritance an d the law of Congenital Familial SyphalangismMethods:The ped iree was analys ed after onthespot inverstigations and diagnoses had been madeRes ults:Th ere were 23 patients in the 46member familyThe incidence of the disease was 50% The probabilities of men suffering from the congenital familial sypha langism were as same as women'sBut there were different degrees of the symptom among these patientsConclusion:The character of the congenital fa milial syphalangism was inherited in the manner of autosomal dominant inheritanc e The expressivities of the gene in individual was not the same as the others' But the gene of the congenital familial syphalangism was differently express ed
