Metabolic bone disease
This group includes all kinds of familial disposition to skeletal problems, including fragility fractures, osteoporosis, osteopathy etc.
To this group belong the whole spectrum from monogenic disorders, which are rare, to polygenic conditions, which are frequent. Click on the disease to study that in more detail.
The clinical picture is dominated by frequent fractures, bone pain, and sometimes extraskeletal calcifications.
The diagnosis is made by clinical examination, family history, bone density measurements and x-ray. The varied laboratory findings are in detail discussed when clicking each diseases.
Not only in the bone itself but also in other organs, such as kidney, liver, gut, and parathyroid gland might be the cause of the disease.
None () Rickets.[^]
None (2004) Inherited ossifying diseases.[^]
Pereira Filho VA et al. () Osteopetrosis of the jaws.[^]
Teli M et al. (2004) Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means.[^]
Bielesz B et al. (2004) Renal phosphate loss in hereditary and acquired disorders of bone mineralization.[^]
Bastepe M et al. (2005) GNAS locus and pseudohypoparathyroidism.[^]
Bess RS et al. (2005) Spinal exostoses: analysis of twelve cases and review of the literature.[^]
None (2004) Craniosynostosis syndromes in the genomic era.[^]
Stieber JR et al. () Manifestations of hereditary multiple exostoses.[^]
None (2002) Isthmic spondylolisthesis.[^]
Hammoud S et al. (2005) Tumoral calcinosis in infants: a report of three cases and review of the literature.[^]
Harb E et al. (2005) Pfeiffer syndrome: systemic and ocular implications.[^]
Matzaroglou C et al. () A "reverse" Maffucci's syndrome: case report and short review of the literature.[^]
None (2005) Renal phosphate--wasting disorders in childhood.[^]
van der Linden-van der Zwaag H et al. (2006) Massive osteolysis (Gorham's disease) affecting the femur.[^]
Nield LS et al. (2006) Rickets: not a disease of the past.[^]
Wikipedia articleWikipedia EN (Metabolic_bone_disease) [^]