Fibrous dysplasia of bone and McCune–Albright syndrome

RD Chapurlat, P Orcel - Best practice & research Clinical rheumatology, 2008 - Elsevier
Fibrous dysplasia of bone is a genetic, non-inheritable disease, characterized by bone pain,
bone deformities and fracture, involving one or several bones. It is caused by mis-sense …

Fibrous dysplasia of bone and McCune–Albright syndrome: a bench to bedside review

I Hartley, M Zhadina, MT Collins, AM Boyce - Calcified tissue international, 2019 - Springer
Fibrous dysplasia is an uncommon mosaic disorder in which bone is replaced by structurally
unsound fibro-osseous tissue. It is caused by the sporadic post-zygotic activating mutations …

Long‐term aminobisphosphonate treatment of fibrous dysplasia: Spectacular increase in bone density

RS Weinstein - Journal of Bone and Mineral Research, 1997 - academic.oup.com
THE MCCUNE-ALBRIGHT SYNDROME is characterized by sex-ual precocity, large and
rough-bordered café-au-lait spots, and polyostotic fibrous dysplasia due to the mosaic …

Current approach to fibrous dysplasia of bone and McCune–Albright syndrome

AI Leet, MT Collins - Journal of children's orthopaedics, 2007 - journals.sagepub.com
Fibrous dysplasia (FD) of bone is an uncommon disease caused by sporadic, congenital
mutations in the cAMP regulating protein, Gsα. It is an example of somatic mosaicism in …

Fibrous dysplasia/McCune-Albright syndrome: clinical and translational perspectives

C Robinson, MT Collins, AM Boyce - Current osteoporosis reports, 2016 - Springer
Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in
fractures, deformity, functional impairment, and pain. It arises from post-zygotic somatic …

Outcome of long‐term bisphosphonate therapy in McCune‐Albright syndrome and polyostotic fibrous dysplasia

BCJ Majoor, NM Appelman‐Dijkstra… - Journal of Bone and …, 2017 - academic.oup.com
McCune‐Albright syndrome (MAS) is a rare bone disorder characterized by fibrous
dysplasia (FD), endocrinopathies, and café‐au‐lait patches. FD patients have been shown …

Fibrous dysplasia of bone: craniofacial and dental implications

AB Burke, MT Collins, AM Boyce - Oral diseases, 2017 - Wiley Online Library
Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating
mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and …

Bisphosphonates for the treatment of fibrous dysplasia of bone

R Chapurlat, MA Legrand - Bone, 2021 - Elsevier
Introduction Fibrous dysplasia of bone (FD) is a rare congenital bone disease, due to a
somatic mutation of GNAS. This mutation results in a defect of osteoblast differentiation and …

Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non–McCune–Albright fibrous dysplasia of bone

P Bianco, M Riminucci, A Majolagbe… - Journal of bone and …, 2000 - academic.oup.com
Activating missense mutations of the GNAS1 gene, encoding the α subunit of the stimulatory
G protein (Gs), have been identified in patients with the McCune–Albright syndrome (MAS; …

Pamidronate treatment of bone fibrous dysplasia in nine children with McCune‐Albright syndrome

R Lala, P Matarazzo, S Bertelloni, F Buzi… - Acta …, 2000 - Wiley Online Library
McCune‐Albright syndrome is a rare genetic disorder consisting of skin and bone dysplasia
and peripheral endocrinopathies. Little data have been collected regarding bisphosphonate …