Journal of the Formosan Medical Association
Volume 108, Issue 7 , Pages 570-576 , July 2009

Clinical Features of Osteogenesis Imperfecta in Taiwan

  • Hsiang-Yu Lin

      Affiliations

    • Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    • Department of Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan
  • ,
  • Shuan-Pei Lin

      Affiliations

    • Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    • Department of Infant and Child Care, National Taipei College of Nursing, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Shuan-Pei Lin, Department of Pediatrics, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei 104, Taiwan
  • ,
  • Chih-Kuang Chuang

      Affiliations

    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Medical College, Fu-Jen Catholic University, Taipei, Taiwan
  • ,
  • Ming-Ren Chen

      Affiliations

    • Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Mackay Medicine, Nursing and Management College, Taipei, Taiwan
  • ,
  • Chia-Ying Chang

      Affiliations

    • Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
  • ,
  • Dau-Ming Niu

      Affiliations

    • Department of Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan
    • Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan

Received 20 August 2008 ,Revised 18 October 2008 ,Accepted 8 January 2009.

References 

  1. Orioli IM , Castilla EE , Barbosa-Neto JG . The birth prevalence rates for the skeletal dysplasias . J Med Genet . 1986;23:328–332
  2. Stoll C , Dott B , Roth MP , et al.   Birth prevalence rates of skeletal dysplasias . Clin Genet . 1989;35:88–92
  3. Smith R . Osteogenesis imperfecta: from phenotype to genotype and back again . Int J Exp Pathol . 1994;75:233–241
  4. Sykes B , Ogilvie D , Wordsworth P , et al.   Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2 . Am J Hum Genet . 1990;46:293–307
  5. Sillence DO , Senn A , Danks DM . Genetic heterogeneity in osteogenesis imperfecta . J Med Genet . 1979;16:101–116
  6. Roughley PJ , Rauch F , Glorieux FH . Osteogenesis imperfecta—clinical and molecular diversity . Eur Cell Mater . 2003;5:41–47
  7. Chen W , Tsai CY , Chen AC , et al.   Growth charts of Taiwanese youth: norms based on health-related physical fitness . Mid Taiwan J Med . 2003;8(Suppl 2):85–93
  8. van der Sluis IM , de Ridder MA , Boot AM , et al.   Reference data for bone density and body composition measured with dual energy x ray absorptiometry in white children and young adults . Arch Dis Child . 2002;87:341–347
  9. Bachrach LK , Hastie T , Wang MC , et al.   Bone mineral acquisition in healthy Asian, Hispanic, Black, and Caucasian youth: a longitudinal study . J Clin Endocrinol Metab . 1999;84:4702–4712
  10. Åström E , Söderhäll S . Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta . Arch Dis Child . 2002;86:356–364
  11. Falk MJ , Heeger S , Lynch KA , et al.   Intravenous bisphosphonate therapy in children with osteogenesis imperfecta . Pediatrics . 2003;111:573–578
  12. Lin HY , Lin SP , Chuang CK , et al.   Intravenous pamidronate therapy in Taiwanese patients with osteogenesis imperfecta . Pediatr Neonatol . 2008;49:161–165
  13. Santili C , Akkari M , Waisberg G , et al.   Clinical, radiographic and laboratory evaluation of patients with osteogenesis imperfecta . Rev Assoc Med Bras . 2005;51:214–220
  14. Zeitlin L , Rauch F , Plotkin H , et al.   Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III and IV . Pediatrics . 2003;111:1030–1036
  15. Moriwake T , Seino Y . Recent progress in diagnosis and treatment of osteogenesis imperfecta . Acta Paediatr Jpn . 1997;39:521–527
  16. Moore MS , Minch CM , Kruse RW , et al.   The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta . Am J Orthop . 1998;27:797–801
  17. Zionts LE , Nash JP , Rude R , et al.   Bone mineral density in children with mild osteogenesis imperfecta . J Bone Joint Surg Br . 1995;77:143–147
  18. Davie MWJ , Haddaway MJ . Bone mineral content and density in healthy subjects and in osteogenesis imperfecta . Arch Dis Child . 1994;70:331–334
  19. Zack P , Zack LR , Surtees R , et al.   A standardized tool to measure and describe scleral colour in osteogenesis imperfecta . Ophthalmic Physiol Opt . 2007;27:174–178
  20. Sillence D , Butler B , Latham M , et al.   Natural history of blue sclerae in osteogenesis imperfecta . Am J Med Genet . 1993;45:183–186
  21. Lukinmaa PL , Ranta H , Ranta K , et al.   Dental findings in osteogenesis imperfecta: I. Occurrence and expression of type I dentinogenesis imperfecta . J Craniofac Genet Dev Biol . 1987;7:115–125
  22. Paterson CR , Monk EA , McAllion SJ . How common is hearing impairment in osteogenesis imperfecta? . J Laryngol Otol . 2001;115:280–282
  23. Kuurila K , Grénman R , Johansson R , et al.   Hearing loss in children with osteogenesis imperfecta . Eur J Pediatr . 2000;159:515–519
  24. Pedersen U . Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients . Scand Audiol . 1984;13:67–74
  25. Kuurila K , Kaitila I , Johansson R , et al.   Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey . Ann Otol Rhinol Laryngol . 2002;111:939–946
  26. Watanabe G , Kawaguchi S , Matsuyama T , et al.   Correlation of scoliotic curvature with Z-score bone mineral density and body mass index in patients with osteogenesis imperfecta . Spine . 2007;32:E488–E494
  27. Karbowski A , Schwitalle M , Eckardt A . Scoliosis in patients with osteogenesis imperfecta: a federal nation-wide crosssectional study . Z Orthop Ihre Grenzgeb . 1999;137:219–222
  28. Engelbert RH , Gerver WJ , Breslau-Siderius LJ , et al.   Spinal complications in osteogenesis imperfecta: 47 patients 1–16 years of age . Acta Orthop Scand . 1998;69:283–286
  29. Rauch F , Glorieux FH . Osteogenesis imperfecta . Lancet . 2004;363:1377–1385
  30. Paterson CR , Burns J , McAllion SJ . Osteogenesis imperfecta: the distinction from child abuse and the recognition of a variant form . Am J Med Genet . 1993;45:187–192

PII: S0929-6646(09)60375-2

doi: 10.1016/S0929-6646(09)60375-2

Journal of the Formosan Medical Association
Volume 108, Issue 7 , Pages 570-576 , July 2009