Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V / Osteoporoza V Otroški Dobi in Predstavitev Dveh Bolnikov Z Osteogenesis Imperfecta Tipa V

1. Bachrach LK, Hastie T, Wnag M-C, Narasimhan B, Marcus R. Bone mineral acquisition in healthy Asian, Hispanic, Black, and Caucasian youth: a longitudinal study. J Clin Endocrinol Metab 1999; 84: 4702-12.10.1210/jc.84.12.4702Search in Google Scholar

2. Manolagas SC, Jilka RL. Bone marrow, cytokines, and bone remodeling. N Engl J Med 1995; 332: 305-11.10.1056/NEJM1995020233205067816067Search in Google Scholar

3. Blake GM, Naeem M, Boutros M. Comparison of effective dose to children and adults from dual X-ray absorptiometry examinations. Bone 2006; 38: 935-42.10.1016/j.bone.2005.11.00716376161Search in Google Scholar

4. World Health Organization. WHO scientific group assessement of the osteoporosis at the primary care level. Geneva: WHO, 2004.Search in Google Scholar

5. Bachrach L, Sills I. Clinical report-bone densitometry in children and adolescents. Pediatrics 2011; 127: 189-94.10.1542/peds.2010-296121187316Search in Google Scholar

6. Zemel BS, Leonard MB, Kelly A, Lappe JM, Gilsanz V, Oberfield S. et al. Height adjustment in assessing dual energy X-ray absorptiometry measurements of bone mass and density in children. J Clin Endocrinol Metab 2010; 95: 1265-73.10.1210/jc.2009-2057284153420103654Search in Google Scholar

7. Landin LA. Epidemiology of children’s fractures. J Pediatr Orthop B 1997; 6: 79-83.10.1097/01202412-199704000-000029165435Search in Google Scholar

8. Goulding A, Jones IE, Taylor RW, Manning PJ, Williams SM. More broken bones: a 4-year double cohort study of young girls with and without distal forearm fractures. J Bone Miner Res 2000; 15: 2011-8.10.1359/jbmr.2000.15.10.201111028455Search in Google Scholar

9. Shaw NJ. Osteoporosis in paediatrics. Arch Dis Child Educ Pract Ed 2007; 92: 169-7510.1136/adc.2006.10579118032712Search in Google Scholar

10. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M. et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 2011; 155A: 943-68.10.1002/ajmg.a.33909316678121438135Search in Google Scholar

11. Valadares ER, Carneiro TB, Santos PM, Oliveira AC, Zabel B. What is new in genetics and osteogenesis imperfecta classification? J Pediatr (Rio J) 2014; 90: 536-41.Search in Google Scholar

12. Marini JC, Reich A, Smith SM. Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. Curr Opin Pediatr 2014; 26: 500-7.10.1097/MOP.0000000000000117418313225007323Search in Google Scholar

13. van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die- Smulders CE. et al. PLS3 mutations in X-linked osteoporosis with fractures. N Engl J Med 2013; 369: 1529-36.10.1056/NEJMoa1308223Search in Google Scholar

14. Glorieux F, Rauch F, Plotkin H, Ward L, Travers R, Roughley P. et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 2000; 15: 1650-8.10.1359/jbmr.2000.15.9.1650Search in Google Scholar

15. Rauch F, Glorieux F. Osteogenesis imperfecta. Lancet 2004; 363: 1377-85.10.1016/S0140-6736(04)16051-0Search in Google Scholar

16. Cheung MS, Glorieux FH, Rauch F. Natural history of hyperplastic callus formation in osteogenesis imperfecta type V. J Bone Miner Res 2007; 22: 1181-6.10.1359/jbmr.07041817451374Search in Google Scholar

17. Vieira RL, Amaral DT, Jesus-Garcia FR, Saraiva G, Fernandes AR, Resnick D. Hyperplastic callus formation in osteogenesis imperfecta type V mimicking osteosacroma: 4-year follow-up with resolution. Skeletal Radiol 2006; 35: 402-5.10.1007/s00256-005-0039-316308718Search in Google Scholar

18. Rieker O, Kreitner KF, Karbowski A. Hyperplastic callus formation in osteogenesis imperfecta: CT and MRI findings. Eur Radiol 1998; 8: 1137-9.10.1007/s0033000505219724425Search in Google Scholar

19. Dobrocky I, Seidl G, Grill F. MRI and CT features of hyperplastic callus in osteogenesis imperfecta tarda. Eur Radiol 1999; 9: 665-8.10.1007/s00330005072910354881Search in Google Scholar

20. Cheung MS, Azouz EM, Glorieux FH, Rauch F. Hyperplastic callus formation in osteogenesis imperfecta type V: follow-up of three generations over ten years. Skeletal Radiol 2008; 37: 465-7.10.1007/s00256-007-0441-018256825Search in Google Scholar

21. Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D. et al. A single recurrent mutation in the 5’-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet 2012; 91: 343-8.10.1016/j.ajhg.2012.06.005341553322863190Search in Google Scholar

22. Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J. et al. A mutation in the 5’-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet 2012; 91: 349-57.10.1016/j.ajhg.2012.06.011341554122863195Search in Google Scholar

23. Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund AM. et al. Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients. J Med Genet 2013; 50: 21-4.10.1136/jmedgenet-2012-101307Search in Google Scholar

24. Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC. et al. Phenotypic variability of osteogenesis imperfecta type V caused by IFITM5 mutation. J Bone Miner Res 2013; 28: 1523-30.10.1002/jbmr.1891Search in Google Scholar

25. Balasubramanian M, Parker MJ, Dalton A, Giunta C, Lindert U, Peres LC. et al. Genotype-phenotype study in type V osteogenesis imperfecta. Clin Dysmorphol 2013; 22: 93-10110.1097/MCD.0b013e32836032f0Search in Google Scholar

26. Lamovec J, Možina E, Baebler B. Hyperplastic callus formation in osteogenesis imperfecta. Ann Diag Pathol 2003; 7: 231-5.10.1016/S1092-9134(03)00051-0Search in Google Scholar

27. Lee DY, Cho TJ, Choi IH, Chung CY, Yoo WY, Kim JH. et al. Clinical and radiological manifestations of osteogenesis imperfecta type V. J Korean Med Sci 2006; 21: 709-14.10.3346/jkms.2006.21.4.709272989516891817Search in Google Scholar

28. Zeitlin L, Rauch F, Travers R, Munns C, Glorieux FH. The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta Type V. Bone 2006; 38; 13-20.10.1016/j.bone.2005.07.02016162424Search in Google Scholar

29. Fleming F, Woodhead HJ, Briody JN, Hall J, Cowell CT, Ault J. et al. Cyclic bisphosphonate therapy in osteogenesis type V. J Pediatr Child Health 2005; 41: 147-51.10.1111/j.1440-1754.2005.00567.x15790328Search in Google Scholar

30. Vuorimies I, Toiviainen-Salo S, Hero M, Mäkitie O. Zoledronic acid treatment in children with osteogenesis imperfecta. Horm Res Paediatr 2011; 75: 346-53.10.1159/00032336821293106Search in Google Scholar

31. Zacharin M, Bateman J. Pamidronate treatment of osteogenesis imperfecta-lack of correlation between clinical severity, age at onset of treatment, predicted collagen mutation and treatment response. J Pediatr Endocrinol Metab 2002; 15: 163-74.10.1515/JPEM.2002.15.2.16311874181Search in Google Scholar

32. Marini F. Falchetti A, Silvestri S, Bagger Y, Luzi E, Tanini A. et al. Modulatory effect of farnesyl pyrophosphate synthase (FDPS) rs2297480 polymorphism on the response to long-term aminobisphosphonate treatment in postmenopausal osteoporosis. Curr Med Res Opin 2008; 24: 2609-15.10.1185/0300799080235289418687167Search in Google Scholar

33. Choi HJ, Choi JY, Cho SW, Kang D, Han KO, Kim SW. et al. Genetic polymorphism in geranylgeranyl diphosphate synthase (GGSP1) predicts bone density response to bisphosphonate therapy in Korean women. Yonsei Med J 2010; 51: 231-8.10.3349/ymj.2010.51.2.231282486920191015Search in Google Scholar