Radiological Features of Osteogenesis Imperfecta Type V: a Report of Two Cases

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PKT Hui, JYL Tung, MKT To, W Chow, WWM Lam, MT Chau

Hong Kong J Radiol 2012;15:36-40

Osteogenesis imperfecta type V is a rare subtype of osteogenesis imperfecta with unique clinical, radiological, and histological features. Herein, we report two paediatric patients with osteogenesis imperfecta type V, both presenting with recurrent bone fractures since early childhood and the classical radiological features of osteogenesis imperfecta type V (calcified radio-ulnar interosseous membrane). One of them also developed hypertrophic callus formation. Knowledge and recognition of these specific radiographic findings can facilitate a timely diagnosis of osteogenesis imperfecta type V, which may have significant implications on management. Such consideration includes bisphosphonate use (a well-established treatment for certain disease subtypes of osteogenesis imperfecta), but may lead to progression of hypertrophic callus in osteogenesis imperfecta type V.





成骨不全症第五型是一種罕見的成骨不全症亞型,有其獨特的臨床、影像及病理學特徵。本文報告 兩名成骨不全症第五型的小兒患者,他們在年幼時經常有骨折的情況,並有成骨不全症第五型的典 型影像特徵,即橈尺骨間膜鈣化。其中一名患者出現膨脹型骨痂形成。認識這些特有的影像特徵有 助加快診斷成骨不全症第五型,因此對治療有重大意義。醫生可考慮的治療方法包括使用雙磷酸鹽 藥物(一種對於成骨不全症一些亞型行之有效的治療),但這療法可導致患者膨脹型骨痂形成。