Wang Guang,Lin Zhangyuan,Lu Bangbao,et al.Osteogenesis imperfect: one case report with a literature review[J].Journal of Clinical Pediatric Surgery,,22():84-87.[doi:10.3760/cma.j.cn101785-202209010-016]
Osteogenesis imperfect: one case report with a literature review
- Keywords:
- Osteogenesis Imperfecta; Fractures; Osteoporosis; Surgical Procedures; Operative; Child
- Abstract:
- As a rare connective tissue disorder,osteogenesis imperfecta (OI) is autosomal dominant with diverse phenotypic manifestations.Included into the first list of rare diseases in China,it remains highly underdiagnosed in clinical practices.The predominant features of OI are bone fragility and an elevated risk of fracture.It is frequently associated with dental abnormalities,blue-gray sclera,hearing impairment or loss,compromised respiratory function,and cardiac valve closure insufficiency.Its clinical typing,diagnosis and treatment deserve a greater attention of orthopedic surgeons.Here the authors reported a 14-year-old boy of multiple fractures with a missed diagnosis of OI.The final diagnosis of type Ⅰ OI was confirmed after thorough physical examinations (blue sclera & dental defects),bone density examination (T value-3.7) and a comprehensive inquiry of his previous history of recurrent low-energy fractures and a maternal history of multiple fractures.It is imperative to heighten the awareness of orthopedic surgeons for such a rare disease as OI.
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Memo
收稿日期:2022-09-10。
通讯作者:祝晟,Email:zhusheng8686@gmail.com