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Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: Clues to pathogenesis
Author(s) -
Arundel Paul,
Offiah Amaka,
Bishop Nicholas J
Publication year - 2011
Publication title -
journal of bone and mineral research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.882
H-Index - 241
eISSN - 1523-4681
pISSN - 0884-0431
DOI - 10.1002/jbmr.258
Subject(s) - osteogenesis imperfecta , ossification , bone development , rickets , medicine , cartilage , osteochondrodysplasia , pathogenesis , anatomy , endochondral ossification , hypophosphatasia , calcification , pathology , biology , endocrinology , vitamin d and neurology , biochemistry , alkaline phosphatase , enzyme
We present the first report of the development of characteristic radiologic appearances of long bones during the first year of life in an infant with type V osteogenesis imperfecta (OI). We show the evolution of metaphyseal abnormalities from a rickets‐like appearance to the classically described dense metaphyseal bands. These abnormalities suggest that the underlying defect in type V OI may involve a molecule common to both bone and cartilage that is involved in the regulation of growth plate development and metadiaphyseal ossification. Our findings provide new insights into skeletal development in type V OI and potentially yield useful clues to the identity of the defect underpinning the condition. © 2011 American Society for Bone and Mineral Research.