Radiographic Features of Osteogenesis Imperfecta about a Female Sibship

• 作者: A. Koutou A. M. Napon B. M. A. Tiemtore-Kambou I. F. N. Sieba I. Ouédraogo N.-A. Ndé-Ouédraogo O. Diallo R. Cissé
• 来源期刊: 医学影像期刊(英文)
• 学科: 医学
• 关键词: OSTEOGENESIS Imperfecta FAMILIAL INVOLVEMENT FEMALE RADIOLOGICAL Features RECESSIVE Mode
• 年，卷（期）: 2020,（1）
• 页码范围: 52-61
• 页数: 10页
• 分类号: R73

摘要

Osteogenesis imperfecta (OI) belongs to a group of congenital osteoporosis which hallmark feature is “affecting skeleton, increasing bone fragility that fracture easily and decreasing bone density due to quantitative and/or qualita-tive abnormalities”. We report a female sibling’s involvement in 3 cases with probable recessive inheritance pattern. Only female aged between 5 and 13 years were affected with skeletal lesions in the lower limbs. The boy of this family had no skeletal or extra-skeletal lesions. Their parents had no affection and no bond of consanguinity. The observed malformations can be classified as type V or VI according to Sillence’s clinical classification. Lack of genetic test in our context has limited accuracy of the diagnosis as new data evoke a genetic classification into 12 types that leading an effective therapeutic management.