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
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A young woman with atypical McCune–Albright syndrome and the difficult road to recovery: a case report [PDF]
Frontiers in SurgeryBackgroundFiber dysplasia is a complex condition that presents with various clinical manifestations, such as deformity, dysfunction, pathological fractures, and endocrine disorders.
Hongbin Wang +5 more
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Delayed Diagnosis of McCune–Albright Syndrome [PDF]
Case Reports in Genetics, 2021 Background. McCune–Albright syndrome (MAS) is a rare heterogeneous genetic disorder that is characterized by a triad of polyostotic fibrous dysplasia (FD), café au lait spots (CAL), and multiple hyperfunctional endocrinopathies.
Bereket Fantahun, Seblewongel Desta
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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
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A case report of McCune–Albright syndrome with hepatic manifestations [PDF]
Clinical Case Reports, 2022 McCune–Albright syndrome is a non‐hereditary disease characterized by café‐au‐lait skin spots, fibrous dysplasia of bone, and endocrinopathies.
Mohammad Haddadi +5 more
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Auxological and Endocrinological Features in Children With McCune Albright Syndrome: A Review [PDF]
Frontiers in Endocrinology, 2020 McCune–Albright syndrome is a rare and challenging congenital sporadic disease involving the skin and skeletal and endocrine systems with a prevalence ranges from one in 100,000 to 1,000,000.
Maria Tufano +3 more
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A Case of McCune–Albright Syndrome with External Auditory Canal Stenosis Treated with Image-Guided Surgery System-Assisted Temporal Bone Surgery [PDF]
Journal of International Advanced OtologyMcCune–Albright syndrome is a disorder of fibrous bone dysplasia complicated by skin pigmentation and endocrine abnormalities. Although temporal bone lesions are rare, surgical treatment is required when external auditory canal (EAC) stenosis develops ...
Takaomi Kurioka +5 more
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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
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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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Fertility journey of a patient with McCune-Albright syndrome associated with bilateral ovarian involvement [PDF]
F&S ReportsObjective: To report a patient with McCune-Albright syndrome (MAS) with bilateral ovarian involvement who had achieved a pregnancy through in vitro fertilization (IVF). Design: Case report. Setting: Academic fertility center.
Joanna J. Kim, M.D. +3 more
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