Lund A M, Skovby F, Knudsen F U
Børneafdeling L, Amtssygehuset i Glostrup.
Ugeskr Laeger. 2000 Mar 13;162(11):1528-33.
Osteogenesis imperfecta is a hereditary connective tissue disorder. Typical manifestations are fragile bones with multiple bone fractures and bone deformities. A history of minimal or no trauma and recurrent fractures is a feature of OI, but is also typical of non-accidental injury (NAI). OI and NAI are relevant differential diagnoses when a child presents with unexplained fractures. The differential diagnostic problems are reviewed, all of which are important for the child both in terms of treatment and for prognosis, socially and medicolegally. We conclude that comprehensive clinical evaluation is adequate for differential diagnosis and that both OI and NAI can be diagnosed by positive anamnestic and objective signs. Mild OI IV without other signs than fracture(s) is very rare and the new entity temporary brittle bone disease is hypothetical; the diagnosis of these two clinical pictures is unacceptable in small children. Routine analysis of collagens should not be performed.
成骨不全是一种遗传性结缔组织疾病。典型表现为骨骼脆弱,伴有多处骨折和骨骼畸形。轻微或无外伤史及反复骨折是成骨不全的特征,但也是非意外性损伤(NAI)的典型表现。当儿童出现不明原因骨折时,成骨不全和非意外性损伤是相关的鉴别诊断。本文回顾了鉴别诊断问题,所有这些问题对儿童的治疗以及社会和法医学方面的预后都很重要。我们得出结论,全面的临床评估足以进行鉴别诊断,成骨不全和非意外性损伤均可通过阳性的既往史和客观体征进行诊断。仅表现为骨折而无其他体征的轻度IV型成骨不全非常罕见,新的“暂时性脆性骨病”实体是一种假设;对于幼儿来说,这两种临床表现的诊断是不可接受的。不应进行胶原蛋白的常规分析。