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Keywords:

  • OSTEOGENESIS IMPERFECTA;
  • RADIOLOGY;
  • PEDIATRICS;
  • GROWTH PLATE;
  • RICKETS

Abstract

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.