Lee Dong Yeon, Cho Tae-Joon, Choi In Ho, Chung Chin Youb, Yoo Won Joon, Kim Ji Hyung, Park Yong Koo
Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.
J Korean Med Sci. 2006 Aug;21(4):709-14. doi: 10.3346/jkms.2006.21.4.709.
We reviewed clinical manifestation of 12 patients from three Korean families. They showed mild to moderate bone fragility, and suggested an autosomal dominant inheritance pattern. Significant intrafamilial phenotype variability was obvious. Clinical, radiological, and histopathologic characteristics that distinguished this subtype from others include ossification of interosseous membrane of the forearm with radial head dislocation, hyperplastic callus formation, no evidence of type I collagenopathy and an abnormal histopathologic pattern. Severity of the interosseous membrane ossification was correlated with increasing age (p<0.01) and the radial head dislocation was thought to be a developmental problem rather than a congenital problem. Four children who had bisphosphonate treatment showed improved bone mineral density, radiological changes, and biochemical responses. Osteogenesis imperfecta type V was a distinctive subtype of osteogenesis imperfecta, which caused mild to moderate disability clinically.
我们回顾了来自三个韩裔家族的12名患者的临床表现。他们表现出轻度至中度的骨脆性，并提示为常染色体显性遗传模式。明显存在显著的家族内表型变异性。将该亚型与其他亚型区分开来的临床、放射学和组织病理学特征包括伴有桡骨头脱位的前臂骨间膜骨化、增生性骨痂形成、无I型胶原病证据以及异常的组织病理学模式。骨间膜骨化的严重程度与年龄增长相关（p<0.01），并且桡骨头脱位被认为是一个发育问题而非先天性问题。接受双膦酸盐治疗的四名儿童显示骨矿物质密度、放射学变化和生化反应有所改善。V型成骨不全是成骨不全的一种独特亚型，临床上导致轻度至中度残疾。
