Scoliosis in Fibrous Dysplasia/McCune‐Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.3446
Abstract: Scoliosis is a complication of fibrous dysplasia/McCune‐Albright syndrome (FD/MAS); however, risk factors and long‐term outcomes are unknown. Bisphosphonates are commonly used; however, it is unknown whether their use decrease the risk of progressive scoliosis. Clinical… read more here.
Keywords: albright syndrome; dysplasia mccune; fibrous dysplasia; scoliosis ... See more keywords
Identification of GNAS Variants in Circulating Cell‐Free DNA from Patients with Fibrous Dysplasia/McCune Albright Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4766
Abstract: Fibrous dysplasia/McCune‐Albright syndrome (FD/MAS) is a rare mosaic bone and endocrine disorder. Although most variants affect the GNAS R201 codon, obtaining a genetic diagnosis is difficult because not all cells harbor the variant, and an… read more here.
Keywords: dysplasia mccune; dna; mccune albright; albright syndrome ... See more keywords
Fibrous Dysplasia of Bone and McCune–Albright Syndrome: A Bench to Bedside Review
Sign Up to like & getrecommendations! Published in 2019 at "Calcified Tissue International"
DOI: 10.1007/s00223-019-00550-z
Abstract: 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 in GNAS, resulting in dysregulated GαS-protein signaling in affected… read more here.
Keywords: bone; review; fibrous dysplasia; dysplasia ... See more keywords
Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Osteoporosis"
DOI: 10.1007/s11657-016-0271-6
Abstract: SummaryTo develop consensus on improving the management of patients, we convened an international workshop involving patients, clinicians, and researchers. Key findings included the diagnostic delay and variability in subsequent management with agreement to develop an… read more here.
Keywords: workshop; partnership; dysplasia mccune; fibrous dysplasia ... See more keywords
Gigantism in a McCune-Albright’s syndrome with calcified GH-releasing pituitary adenoma: Case report and literature review
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2018.10.030
Abstract: Highlights • There have been very few cases of pituitary calcified associated with McCune Albright syndrome.• Pituitary calcification is quite rare by itself.• Unlike this is a benign disease, its behavior is very aggressive and… read more here.
Keywords: case; gigantism mccune; syndrome calcified; albright syndrome ... See more keywords
McCune-Albright syndrome associated with pituitary adenoma: a clinicopathological study of ten cases and literature review.
Sign Up to like & getrecommendations! Published in 2021 at "British journal of neurosurgery"
DOI: 10.1080/02688697.2021.1988512
Abstract: BACKGROUND McCune-Albright syndrome (MAS) is a rare genetic, non-inheritable disease and is characterized by fibrous dysplasia, hyperendocrinism, and café-au-lait macules. Pituitary adenomas could be concurrent with this syndrome but clinicopathological features and the surgical management… read more here.
Keywords: adenoma; pituitary adenoma; associated pituitary; albright syndrome ... See more keywords
A rare pediatric case of McCune–Albright syndrome with acute visual disturbance
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000028815
Abstract: Abstract Rationale: McCune–Albright syndrome (MAS) is a rare disorder characterized by clinical findings, which includes fibrous dysplasia (FD). FD is a benign tumor that leads to increased rates of bone fracture. In some MAS cases… read more here.
Keywords: visual disturbance; mccune albright; albright syndrome; case ... See more keywords
McCune Albright syndrome: an endocrine medley
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-229141
Abstract: McCune Albright syndromeis a rare disorder that presents with multiple endocrine abnormalities. We report the case of a 24-year-old woman who presented with right lower limb pain, with no preceding trauma or fracture. On examination… read more here.
Keywords: albright syndrome; syndrome endocrine; mccune albright; endocrine medley ... See more keywords
Metyrapone as treatment in the neonatal McCune–Albright syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2020-0036
Abstract: Abstract Objectives To present a case report of succesfully metyrapone treatment of a neonatal patient with McCune–Albrigth syndrome (MAS), a rare disease caused by a genetically mosaic disorder and is characterized by variable hyperfunctional endocrinopathies,… read more here.
Keywords: treatment; metyrapone treatment; treatment neonatal; albright syndrome ... See more keywords
Hyperthyroidism in McCune–Albright Syndrome – a case report
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2022-0357
Abstract: Abstract Objectives We intend to describe a case of McCune-Albright Syndrome (MAS), a rare disease characterized by fibrous dysplasia (FD), cutaneous hyperpigmentation and hyperfunctioning endocrinopathies (HFE). Case presentation We report the case of a 13-year-old… read more here.
Keywords: mccune albright; report; albright syndrome; case ... See more keywords
Polyostotic Fibrous Dysplasia With and Without McCune–Albright Syndrome—Clinical Features in a Nordic Pediatric Cohort
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2018.00096
Abstract: Objective Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune–Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine… read more here.
Keywords: cohort; fibrous dysplasia; albright syndrome; nordic pediatric ... See more keywords