家族性石骨症──附8个家族24例报告  

Familial Osteopetrosis - Report of 24 Cases in 8 Families

作　　者：邱水波[1] 吴政光[1] 龚小龙 

机构地区：[1]深圳市红十字会医院影像科,518029

出　　处：《现代医用影像学》2000年第3期105-107,共3页Modern Medical Imageology

摘　　要：目的：研究家族性石骨症的特点。材料与方法：收集 ８个家族共 ２４例石骨症，分析家族发病情况及临床 Ｘ线诊断。结果：２４例中，男１２例，女１２例，平均年龄２１岁。６例有临床症状。８个家族发病情况分别为父－子、父－女患病各２例，母－子、母－女患病各１例，姐妹患病３例，兄弟患病１例。结论：本文２４例石骨症均为良性型。本病遗传特点：父、母发病，遗传上无明显性别差异，其子女发病机率相仿。为减少漏诊，对石骨症患者，有必要进行详细的家系调查。Purpose: To study the characteristics of familial osteopetrosis. Materials and Methods: Collected eight families with 24 cases of osteopetrosis and analyzed the their familial epidemiology and clinical diagnosis in X - ray. ResultS: Among 24 cases, 12 cases were male and 12 female with average age of 21 years old, 6 cases had symptoms. of & families, the patient's relationships were father - son and father - daughter in 2 families, mother - son and mother - daughter in 1 family respectively, sisters in 3 families and brothers in 1 family. Conclusion: All of the 24 cases were in good state. The hereditary characteristic was that there was no difference in sex for later generation, when their parents had osteopetrosis. In order to cut off fail to diagnose we should make datailed family Observation.

关 键 词：石骨症 家族性疾病 家系调查 

分 类 号：R681[医药卫生—骨科学]