Wang Guang,Lin Zhangyuan,Lu Bangbao,et al.Osteogenesis imperfect: one case report with a literature review[J].Journal of Clinical Pediatric Surgery,2023,22(01):84-87.[doi:10.3760/cma.j.cn101785-202209010-016]
儿童成骨不全症1例报告及文献综述
- Title:
- Osteogenesis imperfect: one case report with a literature review
- Keywords:
- Osteogenesis Imperfecta; Fractures; Osteoporosis; Surgical Procedures; Operative; Child
- 摘要:
- 成骨不全症是一种罕见的结缔组织疾病,属于常染色体显性遗传病,具有不同的表型和临床表现,被纳入我国第一批罕见病目录,临床上极易漏诊。成骨不全症的主要特征是骨脆性和骨折风险增加,可合并牙齿异常、蓝灰色巩膜、听力下降或丧失、呼吸功能下降、心脏瓣膜关闭不全等。本文报道1例14岁男性成骨不全症患儿,既往因骨折多次在外院接受诊治,均漏诊成骨不全症,在中南大学湘雅医院经全面体格检查、既往史和家族史采集、骨密度检查(T值-3.7),最终确诊为Ⅰ型成骨不全症。
- 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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备注/Memo
收稿日期:2022-09-10。
通讯作者:祝晟,Email:zhusheng8686@gmail.com