The study of clinical manifestations of osteogenesis imperfecta in a Chinese family.
- VernacularTitle:成骨不全家系分析
- Author:
Xi-Ran WANG
;
Jing-Tao DOU
;
Ju-Ming LU
;
Yu PEI
;
Zhao-Hui LV
;
Jian LI
;
- Publication Type:Journal Article
- Keywords:
osteogenesis imperfecta;
type Ⅰ collagen;
family;
bisphosphonate
- From:
Chinese Journal of Practical Internal Medicine
2001;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the clinical characters,the mode of inheritance of osteogenesis Imperfecta in a Chinese Family and effect of bisphosphonate on Osteogenesis Imperfecta.Methods Clinical data of proband and their family members were collected.The family patterns were mapped.clinical features were summarized and analyzed.Results(1)Clinical features:There are sixty members of four generations in the family.20 cases including proband's mother and cousin were diagnosed as having OI type Ⅰ based on clinical manifestations.15 cases of blue sclera,16 cases of dentinogenesis imperfecta,5 cases of hearing loss and 3 cases of fracture.Thyroid cancer and Turner's syndrome was found in Proband's mother and cousin respectively.(2)The genetic map showed that the disease was autosomal dominant inheritance.(3)Treatment:The proband,her mother and her cousin were treated with alendronate for two years.Bone pain relieved and bone mineral density increased significantly,and no fracture occurred so far.Conclusion(1)This OI family was diagnosed as having OI type Ⅰ.The mode of inheritance is autosomal dominant inheritance.(2)Bisphosphonates may be an effective drug for treatment of OI.
