Clinical and Radiological Manifestations of Osteogenesis Imperfecta Type V.
10.3346/jkms.2006.21.4.709
- Author:
Dong Yeon LEE
1
;
Tae Joon CHO
;
In Ho CHOI
;
Chin Youb CHUNG
;
Won Joon YOO
;
Ji Hyung KIM
;
Yong Koo PARK
Author Information
1. Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea. tjcho@snu.ac.kr
- Publication Type:Original Article
- Keywords:
Osteogenesis Imperfecta;
Dislocations;
Radial Head Dislocation;
Ossification, Heterotopic;
In-terosseous Membrane Ossification
- MeSH:
Range of Motion, Articular;
Pedigree;
Osteogenesis Imperfecta/genetics/*pathology/physiopathology;
Middle Aged;
Male;
Infant;
Humans;
Fractures, Bone/radiography;
Female;
Family Health;
Dislocations/radiography;
Child, Preschool;
Child;
Bone and Bones/abnormalities/*radiography;
Aged;
Adult
- From:Journal of Korean Medical Science
2006;21(4):709-714
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
