Abstract
The human skeleton has the unique function of calcium storage and liberation in addition to locomotion and hematopoiesis and acting as the body framework. Under the complex homeostatic regulation of calcitonin and parathormone as well as the influence of auxiliary hormones and vitamin D, living bones are ceaselessly engaged with deposition and removal of calcium salts in the form of bone production and resorption, which are mediated by the activities of osteoblasts and osteoclasts, respectively. Basically, skeletal diseases are reflected first as quantitative changes in osseous calcium salts and serum calcium levels. The mobilization of calcium salts from and excessive deposition on bone in bone disorders, both nongenetic and genetic, may result in demineralization or decalcification and osteosclerosis, respectively. Then, with the advance of disease, pathological and anatomical skeletal changes may follow manifesting in the form of osteopenia, osteoporosis, osteolysis, sclerosis, eburnation, bone defect, growth disturbance, and deformity, either singly or in combination. Thus, in order to ideally detect bone disorders at an early stage, the calcium metabolic profile of bone must be obtained by an appropriate means before anatomical change takes place.
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Amor B, Cherot A, Delbarre F et al (1977) Hydroxyapatite rheumatism and HLA markers. J Rheumatol Suppl 3:101–104
Bahk YW, Chung SK, Park YH et al (1998) Pinhole SPECT imaging in normal and morbid ankles. J Nucl Med 39:130–139
Benli IT, Akalin S, Boysan E et al (1992) Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br 74:504–506
Black B, Dooley J, Pyper A, Reed M (1993) Multiple hereditary exostoses. An epidemiologic study of an isolated community in Manitoba. Clin Orthop Rel Res 287:212–217
Bonde CT, Vielfreund L (2001) Buschke-Ollendorff syndrome. Connective tissue nevi in osteopoikilosis. Ugeskr Laeger 8:170–171
Cohen-Solal M, de Vernejoul MC (2004) Genetics of osteoporosis. Rev Med Interne 25(Suppl 5):S526–S530
Dahlin DC, Unni KK (1986) Chondroma. In: Bone tumors, 4th edn. Springfield, Thomas
Fong KY (2000) The genetics of spondyloarthropathies. Ann Acad Med Singap 29:370–375
Goldman AB (1995) Heritable diseases of connective tissue, epiphyseal dysplasia, and related conditions. In: Resnick D, Niwayama K (eds) Diagnosis of bone and joint disorders, 3rd edn. Saunders, Philadelphia
Groshar D, Rosenbaum M, Rosner I (1997) Enthesopathies, inflammatory spondyloenthesopathies and bone scintigraphy. J Nucl Med 38:2003–2005
Kahn MA (1988) Ankylosing spondylitis and heterogeneity of HLA-B27. Semin Arthritis Rheum 18:134–141
Kim SH, Chung SK, Bahk YW et al (1999) Whole-body and pinhole bone scintigraphic manifestations of Reiter’s syndrome: distribution patterns and early and characteristic signs. Eur J Nucl Med 26:163–170
Leirisalo M, Skylv G, Kousa M et al (1982) Follow-up study on patients with Reiter’s disease and reactive arthritis, with special reference to HLA-B27. Arthritis Rheum 25:249–259
McAlister WH, Herman TE (1995) Osteochondrodysplasias, dysostoses, chromosomal aberrations, mucopolysaccharidoses, and mucolipidoses. In: Resnick D, Niwayama G (eds) Diagnosis of bone and joint disorders, 3rd edn. Saunders, Philadelphia
McCarty DJ, Gatter RA (1966) Recurrent acute inflammation associated with focal apatite crystal deposition. Arthritis Rheum 9:804–819
Medina M, Viglietti AL, Gozzeli L et al (2000) Indium111 labelled white blood cell scintigraphy in cranial and spinal septic lesions. Eur J Nucl Med 27:1473–1480
Morris R, Metzger AL, Bluestone R et al (1974) HL-A W27—a clue to the diagnosis and pathogenesis of Reiter’s syndrome. N Engl J Med 290:554–556
Mullaji AB, Emery RJH, Joysey VC et al (1993) HLA and slipped capital femoral epiphysis. J Orthop Rheumatol 6:167–169
Ochsner PE (1978) Multiple cartilaginous exostoses and neoplastic degeneration: review of the literature. Z Orthop Ihre Grenzgeb 116:369–378
Peacock M, Turner CH, Econs MJ, Foroud T (2002) Genetics of osteoporosis. Endocr Rev 23:303–326
Pierz KA, Stieber JR, Kusumi K, Dormans JP (2002) Hereditary multiple exostoses: one center’s experience and review of etiology. Clin Orthop Relat Res 401:49–59
Pinals RS, Short CL (1965) Calcific periarthritis involving multiple sites. Arthritis Rheum 8:462
Rambeloarisoa J, el Guedj M, Legeai-Mallet L et al (2002) Hereditary multiple exostoses after 40 years of development: a case report. Rev Med Interne 23:657–664
Roodman GD, Windle JJ (2005) Paget disease of bone. J Clin Invest 115:200–208
Rubin P (1964) Dynamic classification of bone dysplasias. Year Book Medical Publishers, Chicago
Shapiro RF, Utsinger PD, Wiesner KB et al (1976) The association of HL-A B27 with Forestier’s disease (vertebral ankylosing hyperostosis). J Rheumatol 3:4–8
Shi YR, Wu JY, Hsu YA et al (2002) Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan. Genet Test 6:237–243
Taranta A, Migliaccio S, Recchia I et al (2003) Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis. Am J Pathol 162:57–68
Williams PL, Warwick R, Dyson M, Bannister LA (1989) Gray’s anatomy, 37th edn. Churchill Livingstone, Edinburgh
Wordsworth P (1995) Genes and arthritis. Br Med Bull 51:249–266
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Bahk, YW., Chung, SK. (2017). A Genetic Consideration of Skeletal Disorders. In: Combined Scintigraphic and Radiographic Diagnosis of Bone and Joint Diseases. Springer, Singapore. https://doi.org/10.1007/978-981-10-2759-8_23
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DOI: https://doi.org/10.1007/978-981-10-2759-8_23
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