Osteogenesis imperfecta type I: A case report
- Authors:
- Jianmin Ren
- Xiaojie Xu
- Xiangdong Jian
- Jieru Wang
View Affiliations
Affiliations: Department of Endocrine and Metabolic Diseases, Qilu Hospital, Shandong University, Jinan, Shandong 250012, P.R. China, Department of Poisoning and Occupational Diseases, Qilu Hospital, Shandong University, Jinan, Shandong 250012, P.R. China
- Published online on: March 31, 2014 https://doi.org/10.3892/etm.2014.1653
-
Pages:
1535-1538
Metrics: Total
Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
This article is mentioned in:
Abstract
A 15-year-old male patient was admitted to hospital having experienced repeated fractures over the previous three years, predominantly due to falling down or overexertion. The clinical signs and radiological features, such as recurrent fractures, blue sclera and low bone mineral density (BMD) level, all led to the diagnosis of a mild form of osteogenesis imperfecta (OI) type I. The patient began treatment with a regular intake of calcium (1,000 mg/day), an adequate intake of vitamin D (800 U/day) and intravenous pamidronate (60 mg). Following four months of treatment, the symptoms and quality of life of the patient improved. This patient appears to be a rare case of OI type I.
View Figures |
Figure 1
|
|
Figure 2
|
|
Figure 3
|
|
Figure 4
|
|
Figure 5
|
|
Figure 6
|
View References
1
|
Raunch F and Glorieux FH: Osteogenesis
imperfecta. Lancet. 363:1377–1385. 2004. View Article : Google Scholar
|
2
|
van Dijk FS, Cobben JM, Kariminejad A, et
al: Osteogenesis Imperfecta: A review with clinical examples. Mol
Syndromol. 2:1–20. 2011.PubMed/NCBI
|
3
|
Li H, Ji CY, Zong XN and Zhang YQ: Height
and weight growth curves of Chinese children and adolescents 0–18
years. Zhonghua Er Ke Za Zhi. 47:487–492. 2009.(In Chinese).
|
4
|
Carel JC and Léger J: Precocious puberty.
N Engl J Med. 22:2366–2377. 2008. View Article : Google Scholar : PubMed/NCBI
|
5
|
Edge G, Okafor B, Fennelly ME and Ransford
AO: An unusual manifestation of bleeding diathesis in a patient
with osteogenesis imperfecta. Eur J Anaesthesiol. 14:215–219. 1997.
View Article : Google Scholar : PubMed/NCBI
|
6
|
Oakley I and Reece LP: Anesthetic
implications for the patient with osteogenesis imperfecta. AANA J.
78:47–53. 2010.PubMed/NCBI
|
7
|
Sillence DO, Senn A and Danks DM: Genetic
heterogeneity in osteogenesis imperfecta. J Med Genet. 16:101–116.
1979. View Article : Google Scholar : PubMed/NCBI
|
8
|
Glourieux FH: Osteogenesis imperfecta.
Best Pract Res Clin Rheumatol. 22:85–100. 2008. View Article : Google Scholar
|
9
|
Starr SR, Roberts TT and Fischer PR:
Osteogenesis imperfecta: primary care. Pediatr Rev. 31:e54–e64.
2010. View Article : Google Scholar : PubMed/NCBI
|
10
|
Monti E, Mottes M, Fraschini P, et al:
Current and emerging treatments for the management of osteogenesis
imperfecta. Ther Clin Risk Manag. 6:367–381. 2010.PubMed/NCBI
|
11
|
Byers PH, Krakow D, Nunes ME and Pepin M;
American college of medical genetics. Genetic evaluation of
suspected osteogenesis imperfecta (OI). Genet Med. 8:383–388. 2006.
View Article : Google Scholar : PubMed/NCBI
|
12
|
Rohrbach M and Giunta C: Recessive
osteogenesis imperfecta: clinical, radiological, and molecular
findings. Am J Med Genet C Semin Med Genet. 160C:175–189. 2012.
View Article : Google Scholar : PubMed/NCBI
|
13
|
Körkkö J, Ala-Kokko L, De Paepe A, et al:
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and
scanning by conformation-sensitive gel electrophoresis identifies
only COL1A1 mutations in 15 patients with osteogenesis imperfecta
type I: identification of common sequences of null-allele
mutations. Am J Hum Genet. 62:98–110. 1998.
|
14
|
Smith R: Idiopathic juvenile osteoporosis:
experience of twenty-one patients. Br J Rheumatol. 34:68–77. 1995.
View Article : Google Scholar : PubMed/NCBI
|
15
|
Engelbert RH, Pruijs HE, Beemer FA and
Helders PJ: Osteogenesis imperfecta in childhood: treatment
strategies. Arch Phys Med Rehabil. 79:1590–1594. 1998. View Article : Google Scholar : PubMed/NCBI
|
16
|
Zeitlin L, Fassier F and Glorieux FH:
Modern approach to children with osteogenesis imperfecta. J Pediatr
Orthop B. 12:77–87. 2003.PubMed/NCBI
|