Clinical feature: 

Definition: This group includes all kinds of familial disposition to skeletal problems, including fragility fractures, osteoporosis, osteopathy etc.

Pathogenesis: 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.

Epidemiology: 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.

Clinical picture: The clinical picture is dominated by frequent fractures, bone pain, and sometimes extraskeletal calcifications.

Diagnostics: 

Diagnosis: 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.

Literature: 

Nield LS et al. (2006) Rickets: not a disease of the past.
van der Linden-van der Zwaag H et al. (2006) Massive osteolysis (Gorham's disease) affecting the femur.
Ward LM et al. (2005) Renal phosphate--wasting disorders in childhood.
Matzaroglou C et al. () A "reverse" Maffucci's syndrome: case report and short review of the literature.
Harb E et al. (2005) Pfeiffer syndrome: systemic and ocular implications.
Hammoud S et al. (2005) Tumoral calcinosis in infants: a report of three cases and review of the literature.
Ganju A et al. (2002) Isthmic spondylolisthesis.
Stieber JR et al. () Manifestations of hereditary multiple exostoses.
Aleck K et al. (2004) Craniosynostosis syndromes in the genomic era.
Bess RS et al. (2005) Spinal exostoses: analysis of twelve cases and review of the literature.
Bastepe M et al. (2005) GNAS locus and pseudohypoparathyroidism.
Bielesz B et al. (2004) Renal phosphate loss in hereditary and acquired disorders of bone mineralization.
Teli M et al. (2004) Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means.
Pereira Filho VA et al. () Osteopetrosis of the jaws.
Job-Deslandre C et al. (2004) Inherited ossifying diseases.
Berg EE et al. () Rickets.