Clinical and radiological manifestations of osteogenesis imperfecta type V.
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.
Lee
Dong Yeon
DY
Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.
Cho
Tae-Joon
TJ
Choi
In Ho
IH
Chung
Chin Youb
CY
Yoo
Won Joon
WJ
Kim
Ji Hyung
JH
Park
Yong Koo
YK
D000328:Adult; D000368:Aged; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D050723:Fractures, Bone / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D004204:Joint Dislocations / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D010375:Pedigree; D011859:Radiography; D016059:Range of Motion, Articular