ReviewOrphanet journal of rare diseases2012
McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia.
Review in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
106 citing papers in PubMed, 4 syntheses or guidelines pooled it, 248 citations in OpenAlex.
- The use of denosumab in rare bone diseases in adults: a systematic review from the ECTS Rare Bone Disease Action Group.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- The prevalence, diagnostic accuracy and genotype-phenotype correlation ofFrontiers in genetics · 2024Pooled it
- Autonomous growth hormone secretion due to McCune Albright syndrome in paediatric age group: an ominous triad.Endocrine · 2023Pooled it
- Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2015Guideline
- Age-Related Changes and Effects of Bisphosphonates on Bone Turnover and Disease Progression in Fibrous Dysplasia of Bone.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Trial
- Individualized antiresorptive therapy in fibrous dysplasia and McCune-Albright syndrome: A retrospective cohort study.Bone reports · 2026Article
- Mccune-Albright syndrome managed with multiple osteotomies, massive curettage, intramedullary nailing, and bone grafting: a case report.International journal of surgery case reports · 2026Article
- Diagnostic delay, misdiagnosis, and patient-reported psychosocial burden among Chinese individuals with McCune-Albright syndrome: a national cross-sectional survey.Orphanet journal of rare diseases · 2026Article
- Burosumab use in fibroblast growth factor-23-mediated hypophosphatemia in McCune-Albright syndrome/fibrous dysplasia.JCEM case reports · 2026Article
- Peripheral Precocious Puberty Revealing McCune-Albright Syndrome in a Three-Year-Old Girl: A Case Report.Cureus · 2026Article
- Burosumab treatment for FGF23-related hypophosphatemia in a two-year-old girl with McCune-Albright syndrome.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- McCune-Albright Syndrome: A Case Series.Cureus · 2026Article
- Diagnosis and Management of Hypophosphatemic Disorders.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2025Review
- Craniofacial fibrous dysplasia: a challenge for general dental practitioners.British dental journal · 2025Article
- [Precocious puberty in the McCune-Albright Syndrome: a case report].The Pan African medical journal · 2025Article
- Update on the medical management of fibrous dysplasia of the bone.Therapeutic advances in endocrinology and metabolism · 2025Review
- McCune-Albright syndrome with multiple hyperfunctional endocrinopathies: diagnosis, treatment, and long-term follow-up: a case report.Frontiers in endocrinology · 2025Article
- Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center.Frontiers in endocrinology · 2025Article
- Fertility journey of a patient with McCune-Albright syndrome associated with bilateral ovarian involvement.F&S reports · 2024Article
- Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria.European journal of human genetics : EJHG · 2024Article
46 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated renal phosphate wasting, and/or Cushing syndrome, as well as other less common features. The combination of any of these findings, with or without FD, is known as McCune-Albright syndrome (MAS). The broad spectrum of involved tissues and the unpredictable combination of findings owe to the fact that molecular defect is due to dominant activating mutations in the widely expressed signaling protein, Gsα, and the fact these mutations arises sporadically, often times early in development, prior to gastrulation, and can distribute across many or few tissues.The complexity can be mastered by a systematic screening of potentially involved tissues and cognizance that the pattern of involved tissues is established, to some degree, in utero. Thorough testing allows the clinician to establish, often times at presentation, the full extent of the disease, and importantly as well what tissues are unaffected. Treatment and follow-up can then be focused on affected systems and a meaningful prognosis can be offered to the patient and family. The authors outline screening and treatment strategies that allow for effective management of the extraskeletal manifestations of FD.
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Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.