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Primary bone dysplasia with increased bone density

MedGen UID:
433166
•Concept ID:
CN043667
•
Disease or Syndrome
Synonym: Sclerosing Bone Dysplasias
 
Monarch Initiative: MONDO:0800084
Orphanet: ORPHA93444

Professional guidelines

PubMed

Interventions for Improving Bone Mineral Density and Reducing Fracture Risk in Osteogenesis Imperfecta: A Mixed Treatment Comparison Network Meta-analysis of Randomized Controlled Clinical Trials.
Sridharan K, Sivaramakrishnan G
Curr Clin Pharmacol 2018;13(3):190-198. doi: 10.2174/1574884713666180829143927. PMID: 30160216
Inflammatory and degenerative sacroiliac joint disease in a primary back pain cohort.
O'Shea FD, Boyle E, Salonen DC, Ammendolia C, Peterson C, Hsu W, Inman RD
Arthritis Care Res (Hoboken) 2010 Apr;62(4):447-54. doi: 10.1002/acr.20168. PMID: 20391497
Orthopedic management of osteopetrosis: results of a survey and review of the literature.
Armstrong DG, Newfield JT, Gillespie R
J Pediatr Orthop 1999 Jan-Feb;19(1):122-32. PMID: 9890301

Recent clinical studies

Etiology

Osteogenesis imperfecta in children.
Arshad F, Bishop N
Bone 2021 Jul;148:115914. Epub 2021 Mar 17 doi: 10.1016/j.bone.2021.115914. PMID: 33722772
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J
Lancet 2020 Sep 5;396(10252):684-692. doi: 10.1016/S0140-6736(20)31541-5. PMID: 32891212
Bisphosphonate therapy for osteogenesis imperfecta.
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article
Case Histories.
Katugampola H, Saraff V, Kumaran A, Allgrove J, Shaw NJ
Endocr Dev 2015;28:319-413. Epub 2015 Jun 12 doi: 10.1159/000381571. PMID: 26138850
Osteopetrosis.
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article

Diagnosis

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J
Lancet 2020 Sep 5;396(10252):684-692. doi: 10.1016/S0140-6736(20)31541-5. PMID: 32891212
A Practical Approach to Hypocalcaemia in Children.
Shaw NJ
Endocr Dev 2015;28:84-100. Epub 2015 Jun 12 doi: 10.1159/000380997. PMID: 26138837
Autoimmune myelofibrosis: an update on morphologic features in 29 cases and review of the literature.
Vergara-Lluri ME, Piatek CI, Pullarkat V, Siddiqi IN, O'Connell C, Feinstein DI, Brynes RK
Hum Pathol 2014 Nov;45(11):2183-91. Epub 2014 Aug 13 doi: 10.1016/j.humpath.2014.07.017. PMID: 25282037
Osteopetrosis.
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article
Sclerosing bone disorders.
de Vernejoul MC
Best Pract Res Clin Rheumatol 2008 Mar;22(1):71-83. doi: 10.1016/j.berh.2007.12.011. PMID: 18328982

Therapy

Osteogenesis imperfecta in children.
Arshad F, Bishop N
Bone 2021 Jul;148:115914. Epub 2021 Mar 17 doi: 10.1016/j.bone.2021.115914. PMID: 33722772
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J
Lancet 2020 Sep 5;396(10252):684-692. doi: 10.1016/S0140-6736(20)31541-5. PMID: 32891212
Interventions for Improving Bone Mineral Density and Reducing Fracture Risk in Osteogenesis Imperfecta: A Mixed Treatment Comparison Network Meta-analysis of Randomized Controlled Clinical Trials.
Sridharan K, Sivaramakrishnan G
Curr Clin Pharmacol 2018;13(3):190-198. doi: 10.2174/1574884713666180829143927. PMID: 30160216
Bisphosphonate therapy for osteogenesis imperfecta.
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article
Bisphosphonate therapy for osteogenesis imperfecta.
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2014 Jul 23;(7):CD005088. doi: 10.1002/14651858.CD005088.pub3. PMID: 25054949

Prognosis

The Leydig cell biomarker INSL3 as a predictor of age-related morbidity: Findings from the EMAS cohort.
Ivell R, Heng K, Severn K, Antonio L, Bartfai G, Casanueva FF, Huhtaniemi IT, Giwercman A, Maggi M, O'Connor DB, O'Neill TW, Punab M, Rastrelli G, Slowikowska-Hilczer J, Tournoy J, Vanderschueren D, Wu FCW, Anand-Ivell R
Front Endocrinol (Lausanne) 2022;13:1016107. Epub 2022 Nov 8 doi: 10.3389/fendo.2022.1016107. PMID: 36425465Free PMC Article
A multi-model approach to predict efficacious clinical dose for an anti-TGF-β antibody (GC2008) in the treatment of osteogenesis imperfecta.
Mavroudis PD, Pillai N, Wang Q, Pouzin C, Greene B, Fretland J
CPT Pharmacometrics Syst Pharmacol 2022 Nov;11(11):1485-1496. Epub 2022 Sep 27 doi: 10.1002/psp4.12857. PMID: 36004727Free PMC Article
Osteogenesis imperfecta in children.
Arshad F, Bishop N
Bone 2021 Jul;148:115914. Epub 2021 Mar 17 doi: 10.1016/j.bone.2021.115914. PMID: 33722772
Case Histories.
Katugampola H, Saraff V, Kumaran A, Allgrove J, Shaw NJ
Endocr Dev 2015;28:319-413. Epub 2015 Jun 12 doi: 10.1159/000381571. PMID: 26138850
Autoimmune myelofibrosis: an update on morphologic features in 29 cases and review of the literature.
Vergara-Lluri ME, Piatek CI, Pullarkat V, Siddiqi IN, O'Connell C, Feinstein DI, Brynes RK
Hum Pathol 2014 Nov;45(11):2183-91. Epub 2014 Aug 13 doi: 10.1016/j.humpath.2014.07.017. PMID: 25282037

Clinical prediction guides

Focus on Osteosclerotic Progression in Primary Myelofibrosis.
Spampinato M, Giallongo C, Romano A, Longhitano L, La Spina E, Avola R, Scandura G, Dulcamare I, Bramanti V, Di Rosa M, Vicario N, Parenti R, Li Volti G, Tibullo D, Palumbo GA
Biomolecules 2021 Jan 19;11(1) doi: 10.3390/biom11010122. PMID: 33477816Free PMC Article
Interventions for Improving Bone Mineral Density and Reducing Fracture Risk in Osteogenesis Imperfecta: A Mixed Treatment Comparison Network Meta-analysis of Randomized Controlled Clinical Trials.
Sridharan K, Sivaramakrishnan G
Curr Clin Pharmacol 2018;13(3):190-198. doi: 10.2174/1574884713666180829143927. PMID: 30160216
Bisphosphonate therapy for osteogenesis imperfecta.
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article
Bisphosphonate therapy for osteogenesis imperfecta.
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2014 Jul 23;(7):CD005088. doi: 10.1002/14651858.CD005088.pub3. PMID: 25054949
Recent developments in the understanding of the pathophysiology of osteopetrosis.
Felix R, Hofstetter W, Cecchini MG
Eur J Endocrinol 1996 Feb;134(2):143-56. doi: 10.1530/eje.0.1340143. PMID: 8630510

Recent systematic reviews

Bisphosphonate therapy for osteogenesis imperfecta.
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article
Bisphosphonate therapy for osteogenesis imperfecta.
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2014 Jul 23;(7):CD005088. doi: 10.1002/14651858.CD005088.pub3. PMID: 25054949
Bisphosphonate therapy for osteogenesis imperfecta.
Phillipi CA, Remmington T, Steiner RD
Cochrane Database Syst Rev 2008 Oct 8;(4):CD005088. doi: 10.1002/14651858.CD005088.pub2. PMID: 18843680
Idiopathic osteosclerosis in the jaws of Britons and of the Hong Kong Chinese: radiology and systematic review.
MacDonald-Jankowski DS
Dentomaxillofac Radiol 1999 Nov;28(6):357-63. doi: 10.1038/sj/dmfr/4600485. PMID: 10578190

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