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.
1. |
None (2004) Inherited ossifying diseases. |
2. |
Nield LS et al. (2006) Rickets: not a disease of the past. |
3. |
van der Linden-van der Zwaag H et al. (2006) Massive osteolysis (Gorham's disease) affecting the femur. |
4. |
None (2005) Renal phosphate--wasting disorders in childhood. |
5. |
Matzaroglou C et al. () A "reverse" Maffucci's syndrome: case report and short review of the literature. |
6. |
Harb E et al. (2005) Pfeiffer syndrome: systemic and ocular implications. |
7. |
Hammoud S et al. (2005) Tumoral calcinosis in infants: a report of three cases and review of the literature. |
8. |
None (2002) Isthmic spondylolisthesis. |
9. |
Stieber JR et al. () Manifestations of hereditary multiple exostoses. |
10. |
None (2004) Craniosynostosis syndromes in the genomic era. |
11. |
Bess RS et al. (2005) Spinal exostoses: analysis of twelve cases and review of the literature. |
12. |
Bastepe M et al. (2005) GNAS locus and pseudohypoparathyroidism. |
13. |
Bielesz B et al. (2004) Renal phosphate loss in hereditary and acquired disorders of bone mineralization. |
14. |
Teli M et al. (2004) Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means. |
15. |
Pereira Filho VA et al. () Osteopetrosis of the jaws. |
16. |
None () Rickets. |
17. |
Wikipedia article Wikipedia EN (Metabolic_bone_disease) |