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Polyostotic fibrous dysplasia, somatic, mosaic

MedGen UID:
393373
•Concept ID:
C2675383
•
Finding
Synonym: POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC
 
OMIM®: 139320

Professional guidelines

PubMed

First radiobiological characterization of the McCune-Albright syndrome: influence of the ATM protein and effect of statins + bisphosphonates treatment.
Bachelet JT, Granzotto A, Ferlazzo M, Sonzogni L, Berthel E, Devic C, Foray N
Int J Radiat Biol 2021;97(3):317-328. Epub 2021 Jan 6 doi: 10.1080/09553002.2021.1864045. PMID: 33320757
The Clinical Spectrum of McCune-Albright Syndrome and Its Management.
Spencer T, Pan KS, Collins MT, Boyce AM
Horm Res Paediatr 2019;92(6):347-356. Epub 2019 Dec 19 doi: 10.1159/000504802. PMID: 31865341Free PMC Article
A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome.
Karadag A, Riminucci M, Bianco P, Cherman N, Kuznetsov SA, Nguyen N, Collins MT, Robey PG, Fisher LW
Nucleic Acids Res 2004 Apr 19;32(7):e63. doi: 10.1093/nar/gnh059. PMID: 15096559Free PMC Article

Recent clinical studies

Etiology

First radiobiological characterization of the McCune-Albright syndrome: influence of the ATM protein and effect of statins + bisphosphonates treatment.
Bachelet JT, Granzotto A, Ferlazzo M, Sonzogni L, Berthel E, Devic C, Foray N
Int J Radiat Biol 2021;97(3):317-328. Epub 2021 Jan 6 doi: 10.1080/09553002.2021.1864045. PMID: 33320757
McCune-Albright syndrome: clinical picture and natural history in children and adolescents.
Völkl TM, Dörr HG
J Pediatr Endocrinol Metab 2006 May;19 Suppl 2:551-9. doi: 10.1515/jpem.2006.19.s2.551. PMID: 16789617
Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS.
Shenker A, Weinstein LS, Moran A, Pescovitz OH, Charest NJ, Boney CM, Van Wyk JJ, Merino MJ, Feuillan PP, Spiegel AM
J Pediatr 1993 Oct;123(4):509-18. doi: 10.1016/s0022-3476(05)80943-6. PMID: 8410501

Diagnosis

Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS).
Vado Y, Manero-Azua A, Pereda A, Perez de Nanclares G
Genes (Basel) 2024 Jan 18;15(1) doi: 10.3390/genes15010120. PMID: 38255009Free PMC Article
Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation.
Boyce AM, Collins MT
Endocr Rev 2020 Apr 1;41(2):345-70. doi: 10.1210/endrev/bnz011. PMID: 31673695Free PMC Article
The Clinical Spectrum of McCune-Albright Syndrome and Its Management.
Spencer T, Pan KS, Collins MT, Boyce AM
Horm Res Paediatr 2019;92(6):347-356. Epub 2019 Dec 19 doi: 10.1159/000504802. PMID: 31865341Free PMC Article
Neonatal McCune-Albright syndrome with systemic involvement: a case report.
Lourenço R, Dias P, Gouveia R, Sousa AB, Oliveira G
J Med Case Rep 2015 Sep 4;9:189. doi: 10.1186/s13256-015-0689-2. PMID: 26341786Free PMC Article
Genetics of McCune-Albright syndrome.
de Sanctis L, Delmastro L, Russo MC, Matarazzo P, Lala R, de Sanctis C
J Pediatr Endocrinol Metab 2006 May;19 Suppl 2:577-82. doi: 10.1515/jpem.2006.19.s2.577. PMID: 16789620

Therapy

First radiobiological characterization of the McCune-Albright syndrome: influence of the ATM protein and effect of statins + bisphosphonates treatment.
Bachelet JT, Granzotto A, Ferlazzo M, Sonzogni L, Berthel E, Devic C, Foray N
Int J Radiat Biol 2021;97(3):317-328. Epub 2021 Jan 6 doi: 10.1080/09553002.2021.1864045. PMID: 33320757
Neonatal McCune-Albright syndrome with systemic involvement: a case report.
Lourenço R, Dias P, Gouveia R, Sousa AB, Oliveira G
J Med Case Rep 2015 Sep 4;9:189. doi: 10.1186/s13256-015-0689-2. PMID: 26341786Free PMC Article
Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone.
Bianco P, Riminucci M, Majolagbe A, Kuznetsov SA, Collins MT, Mankani MH, Corsi A, Bone HG, Wientroub S, Spiegel AM, Fisher LW, Robey PG
J Bone Miner Res 2000 Jan;15(1):120-8. doi: 10.1359/jbmr.2000.15.1.120. PMID: 10646121
Monozygotic twins discordant for the major signs of McCune-Albright syndrome.
Endo M, Yamada Y, Matsuura N, Niikawa N
Am J Med Genet 1991 Nov 1;41(2):216-20. doi: 10.1002/ajmg.1320410217. PMID: 1838461
The McCune-Albright syndrome: a lethal gene surviving by mosaicism.
Happle R
Clin Genet 1986 Apr;29(4):321-4. doi: 10.1111/j.1399-0004.1986.tb01261.x. PMID: 3720010

Prognosis

The Clinical Spectrum of McCune-Albright Syndrome and Its Management.
Spencer T, Pan KS, Collins MT, Boyce AM
Horm Res Paediatr 2019;92(6):347-356. Epub 2019 Dec 19 doi: 10.1159/000504802. PMID: 31865341Free PMC Article
Neonatal McCune-Albright syndrome with survival beyond two years.
Pierce M, Scottoline B
Am J Med Genet A 2016 Nov;170(11):3008-3012. Epub 2016 Jul 13 doi: 10.1002/ajmg.a.37841. PMID: 27411099
G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome.
Weinstein LS
J Bone Miner Res 2006 Dec;21 Suppl 2:P120-4. doi: 10.1359/jbmr.06s223. PMID: 17229000
McCune-Albright syndrome: clinical picture and natural history in children and adolescents.
Völkl TM, Dörr HG
J Pediatr Endocrinol Metab 2006 May;19 Suppl 2:551-9. doi: 10.1515/jpem.2006.19.s2.551. PMID: 16789617
McCune-Albright syndrome: molecular genetics.
Lumbroso S, Paris F, Sultan C
J Pediatr Endocrinol Metab 2002;15 Suppl 3:875-82. PMID: 12199345

Clinical prediction guides

First radiobiological characterization of the McCune-Albright syndrome: influence of the ATM protein and effect of statins + bisphosphonates treatment.
Bachelet JT, Granzotto A, Ferlazzo M, Sonzogni L, Berthel E, Devic C, Foray N
Int J Radiat Biol 2021;97(3):317-328. Epub 2021 Jan 6 doi: 10.1080/09553002.2021.1864045. PMID: 33320757
G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome.
Weinstein LS
J Bone Miner Res 2006 Dec;21 Suppl 2:P120-4. doi: 10.1359/jbmr.06s223. PMID: 17229000
McCune-Albright syndrome: molecular genetics.
Lumbroso S, Paris F, Sultan C
J Pediatr Endocrinol Metab 2002;15 Suppl 3:875-82. PMID: 12199345
Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone.
Bianco P, Riminucci M, Majolagbe A, Kuznetsov SA, Collins MT, Mankani MH, Corsi A, Bone HG, Wientroub S, Spiegel AM, Fisher LW, Robey PG
J Bone Miner Res 2000 Jan;15(1):120-8. doi: 10.1359/jbmr.2000.15.1.120. PMID: 10646121
The McCune-Albright syndrome: a lethal gene surviving by mosaicism.
Happle R
Clin Genet 1986 Apr;29(4):321-4. doi: 10.1111/j.1399-0004.1986.tb01261.x. PMID: 3720010

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