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Case Report

An unusual presentation of osteogenesis imperfecta type I

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Pages 25-29 | Published online: 04 Apr 2011

References

  • MariniJCCabralWABarnesAMNull mutations in LEPRE and CRTAP cause severe recessive osteogenesis imperfectCell Tissue Res20103391597019862557
  • MartinEShapiroJROsteogenesis Imperfecta: epidemiology and pathophisiologyCurr Osteoporos Rep200753919717925189
  • RaunchFGlorieuxFHOsteogenesis imperfecta. (Seminar)Lancet200436394181377138515110498
  • GlourieuxFHOsteogenesis ImperfectaBest Pract Res Clin Rheumatol20082218510018328983
  • ByersPHSteinerRDOsteogenesis ImperfectaAnnu Rev Med1992432692821580589
  • RoughleyPJRaunchFGlorieuxFHOsteogenesis imperfecta – Clinical and molecular diversityEur Cell Mater20035414714562271
  • PaceJMWieseMDrenguisASDefective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfectaJ Biol Chem200828323160611606718375391
  • ShapiroJRSponsellorPDOsteogenesis Imperfecta: questions and answersCurr Opin Pediatr200921670971619907330
  • KorkooJAla-KokkoLDe PaepeANuytinckLEarleyJProckopDJAnalysis of the COL1 A1 and COL1 A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1 A1 mutations in 15 patients with osteogenesis imperfect type I: identification of common sequences null-allele mutationsAm J Hum Genet1998621981109443882
  • MarloweAPepinMGByersPHTesting for osteogenesis imperfecta in cases of suspected non-accidental injuryJ Med Genet200239638238612070242
  • CheungMSGlorieuxFOsteogenesis Imperfecta: Update on presentation and managementRev Endocr Metab Disord20089215316018404382
  • TrummerTBrennerRJustWVogelWKennerknechtIRecurrent mutations in COL1 A2 in patients with Osteogenesis ImperfectaClin Genet200159533834311359465
  • KhovidhunkitWEpsteinSOsteoporosis in PregnancyOsteoporos Int1996653453548931028
  • GregorioSDDanilowiczKRubinZMautalenCOsteoporosis with Vertebral Fracture Associated with Pregnancy and LactationNutrition20001611–121052105511118824
  • SullivanSMGreyABSinghRReidIRBiphosphonates in pregnancy and lactation-associated osteoporosisOsteoporos Int20061771008101216758139
  • ReginsterJYBruyèreOSawickiALong-term treatment of postmenopausal osteoporosis with strontium ranelate: results at 8 yearsBone20094561059106419679207
  • WattsNBDiabDLLong-term use of biphosphonates in osteoporosisJ Clin Endocrinol Metab20109541555156520173017
  • BianchiMLCimazRBardareMEfficacy and safety of alendronate for the treatment of osteoporosis in diffuse connective tissue diseases in childrenClin Pediatr (Phila)2002415362363