McCune-Albright Syndrome [PDF]
Kansas journal of medicine, 2020 A ten-year-old female presented to our dermatology clinic with her mother, our patient, at which time we incidentally noted a large light brown patch on the daughter’s cheek (shown above). The girl was a fifth grader in elementary school.
Nada Jibbe, A. Jibbe, Anand Rajpara
semanticscholar +5 more sources
Activating Mutations of the Stimulatory G Protein in the McCune–Albright Syndrome [PDF]
New England Journal of Medicine, 1991 BACKGROUND The McCune-Albright syndrome is a sporadic disease characterized by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands.
Lee S. Weinstein +5 more
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McCune-Albright syndrome [PDF]
Orphanet Journal of Rare Diseases, 2008 McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000.
Collins Michael T, Dumitrescu Claudia E
doaj +4 more sources
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium [PDF]
Orphanet Journal of Rare Diseases, 2019 Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features
M K Javaid +20 more
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Journal of Bone and Mineral Research, Volume 38, Issue 7, Page 968-975, July 2023., 2023 ABSTRACT This study aimed to evaluate the prevalence of and risk factors for coxa vara deformity in patients with fibrous dysplasia/McCune‐Albright syndrome (FD/MAS). This study was conducted at the National Institutes of Health and Leiden University Medical Center. All patients with any subtype of FD/MAS, FD involving the proximal femur, one or more X‐
Maartje E. Meier +7 more
wiley +2 more sources
MCCUNE-ALBRIGHT SYNDROME (MAS) [PDF]
Averrous: Jurnal Kedokteran dan Kesehatan Malikussaleh, 2019 McCune-Albright Syndrome (MAS) adalah suatu penyakit yang etiologinya adalah akibat mutasi gen guanine nucleotide binding alpha stimulating (GNAS1) pada masa embrionik.
Mardiati Mardiati, Fury Maulina
doaj +4 more sources
Fibrous dysplasia: A tale of two syndromes [PDF]
South African Journal of RadiologyFibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations.
Jacques Fourie +3 more
doaj +3 more sources
Pamidronic acid and cabergoline as effective long-term therapy in a 12-year-old girl with extended facial polyostotic fibrous dysplasia, prolactinoma and acromegaly in McCune-Albright syndrome: a case report [PDF]
Journal of Medical Case Reports, 2012 Introduction McCune-Albright syndrome is a complex inborn disorder due to early embryonal postzygotic somatic activating mutations in the GNAS1 gene. The phenotype is very heterogeneous and includes polyostotic fibrous dysplasia, typically involving the ...
Classen Carl +4 more
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DIAGNOSIS OF ENDOCRINE DISEASE: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune–Albright syndrome and cutaneous skeletal hypophosphatemia syndrome [PDF]
European Journal of Endocrinology, 2020 Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS), arising from gain-of-function mutations in Gαs, and Cutaneous Skeletal Hypophosphatemia Syndrome (CSHS), arising from gain-of-function mutations in the Ras/MAPK pathway, are strikingly complex, mosaic ...
Luis F de Castro +2 more
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MR and CT findings of cyst degeneration of sphenoid bone in McCune-Albright syndrome: a case report [PDF]
, 2009 © 2009 Li et al; licensee BioMed Central Ltd.
Ping Li +5 more
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