title: Bone mass and mineralization in osteogenesis imperfecta.
abstract: The main clinical features of osteogenesis imperfecta (OI) are low bone mass and high bone fragility. While the decrease in bone mass is generally regarded as an indicator of disease severity, bone fragility appears as the hallmark of the disorder. Bone has a multiscale hierarchical structural organization and is optimized to resist to fractures. In OI, modifications at the molecular level affect the total mechanical integrity of the bone. A specific characteristic in OI is that the bone matrix is abnormally high mineralized independently of the underlying mutation or clinical severity. The increased matrix mineralization affects bone material quality, leading to increased stiffness and brittleness and making bone prone to fractures. The purpose of this review is to give further insights on bone matrix mineralization in OI and to discuss advantages and pitfalls of invasive and noninvasive imaging techniques.
authors.affiliation: Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling 1st Med. Dept. Hanusch Hospital, Heinrich Collin Str. 30, 1140, Vienna, Austria, nadja.fratzl-zelman@osteologie.at.
authors.forename: Nadja
authors.initials: N
authors.lastname: Fratzl-Zelman
authors.forename: Barbara M
authors.initials: BM
authors.lastname: Misof
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer
authors.forename: Paul
authors.initials: P
authors.lastname: Roschger
mesh_terms: D015502:Absorptiometry, Photon; D000293:Adolescent; D001706:Biopsy; D015519:Bone Density / Q000235:genetics / Q000502:physiology; D001857:Bone Matrix / Q000473:pathology; D002648:Child; D003952:Diagnostic Imaging; D005598:Fractures, Spontaneous / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000235:genetics; D012307:Risk Factors; D014057:Tomography, X-Ray Computed