Management of rare bone diseases

Osteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and other connective tissue manifestations with a wide spectrum of clinical expressions. Even though the main problems come from the skeleton, we have to make an overall examination including skeletal deformities, joints and muscles, hearing, sight, teeth, heart, lungs and gastrointestinal organs to establish optimal follow up guidelines for people with OI. These examinations should then provide the...

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ba0005cu2.2 | Management of rare bone diseases | ECTS2016

Fibrous dysplasia in the adult

chapurlat Roland

Fibrous dysplasia of bone (FD) is a rare bone disease affecting one or several bones, due to a somatic mutation of GNAS responsible for abnormal differentiation of the osteoblastic cell lineage. The bone lesions may be associated with bone pain, fracture, deformity and neurologic compression. McCune-Albright syndrome is an association of FD, endocrine complications - mainly peripheral precocious puberty - and café-au-lait cutaneous spots.The mutated...

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ba0005cu2.3 | Management of rare bone diseases | ECTS2016