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Fibrogenesis imperfecta ossium

MedGen UID:
1054434
•Concept ID:
CN377677
•
Disease or Syndrome
Synonyms: baker's disease; fibrogenesis imperfecta ossium
 
Monarch Initiative: MONDO:0000849

Definition

A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. [from MONDO]

Recent clinical studies

Etiology

Fibrogenesis imperfecta ossium: imaging correlation in three new patients.
Wang CS, Steinbach LS, Campbell JB, Hayashi G, Yoon ST, Johnston JO
Skeletal Radiol 1999 Jul;28(7):390-5. doi: 10.1007/s002560050535. PMID: 10478620

Diagnosis

Fibrogenesis Imperfecta Ossium.
Bhadada SK, Dhaliwal R, Dhiman V, Rao SD
Calcif Tissue Int 2019 May;104(5):561-569. Epub 2019 May 8 doi: 10.1007/s00223-019-00547-8. PMID: 31069441
Report on a case of fibrogenesis imperfecta ossium and a possible new treatment option.
Bakos B, Lukáts Á, Lakatos P, Győri G, Tremmel A, Takács I
Osteoporos Int 2014 May;25(5):1643-6. Epub 2014 Mar 20 doi: 10.1007/s00198-014-2675-8. PMID: 24647887
Fibrogenesis imperfecta ossium: imaging correlation in three new patients.
Wang CS, Steinbach LS, Campbell JB, Hayashi G, Yoon ST, Johnston JO
Skeletal Radiol 1999 Jul;28(7):390-5. doi: 10.1007/s002560050535. PMID: 10478620
Fibrogenesis imperfecta ossium.
Carr AJ, Smith R, Athanasou N, Woods CG
J Bone Joint Surg Br 1995 Sep;77(5):820-9. PMID: 7559718
Fibrogenesis imperfecta ossium. A collagen defect causing osteomalacia.
Frame B, Frost HM, Pak CY, Reynolds W, Argen RJ
N Engl J Med 1971 Sep 30;285(14):769-72. doi: 10.1056/NEJM197109302851403. PMID: 5567261

Therapy

Fibrogenesis Imperfecta Ossium.
Bhadada SK, Dhaliwal R, Dhiman V, Rao SD
Calcif Tissue Int 2019 May;104(5):561-569. Epub 2019 May 8 doi: 10.1007/s00223-019-00547-8. PMID: 31069441
Fibrogenesis Imperfecta Ossium and Response to Human Growth Hormone: A Potential Therapy.
Bhadada SK, Dhiman V, Mukherjee S, Aggarwal S, Bal A, Sukumar SP, Sood A, Sharma DC, Khandelwal N, Bhansali A, Van Hul W, Rao SD
J Clin Endocrinol Metab 2017 May 1;102(5):1750-1756. doi: 10.1210/jc.2016-3055. PMID: 28323922
Fibrogenesis imperfecta ossium.
Carr AJ, Smith R, Athanasou N, Woods CG
J Bone Joint Surg Br 1995 Sep;77(5):820-9. PMID: 7559718
Fibrogenesis imperfecta ossium.
Swan CH, Shah K, Brewer DB, Cooke WT
Q J Med 1976 Apr;45(178):233-53. PMID: 1085005
Fibrogenesis imperfecta ossium.
Baker SL, Dent CE, Friedman M, Watson L
J Bone Joint Surg Br 1966 Nov;48(4):804-25. PMID: 5954373

Prognosis

Fibrogenesis Imperfecta Ossium.
Bhadada SK, Dhaliwal R, Dhiman V, Rao SD
Calcif Tissue Int 2019 May;104(5):561-569. Epub 2019 May 8 doi: 10.1007/s00223-019-00547-8. PMID: 31069441
Report on a case of fibrogenesis imperfecta ossium and a possible new treatment option.
Bakos B, Lukáts Á, Lakatos P, Győri G, Tremmel A, Takács I
Osteoporos Int 2014 May;25(5):1643-6. Epub 2014 Mar 20 doi: 10.1007/s00198-014-2675-8. PMID: 24647887
Fibrogenesis imperfecta ossium (Baker's disease): a case studied at autopsy.
Sissons HA
Bone 2000 Dec;27(6):865-73. doi: 10.1016/s8756-3282(00)00401-4. PMID: 11113399
Fibrogenesis imperfecta ossium.
Carr AJ, Smith R, Athanasou N, Woods CG
J Bone Joint Surg Br 1995 Sep;77(5):820-9. PMID: 7559718
Fibrogenesis imperfecta ossium.
Swan CH, Shah K, Brewer DB, Cooke WT
Q J Med 1976 Apr;45(178):233-53. PMID: 1085005

Clinical prediction guides

Fibrogenesis Imperfecta Ossium.
Bhadada SK, Dhaliwal R, Dhiman V, Rao SD
Calcif Tissue Int 2019 May;104(5):561-569. Epub 2019 May 8 doi: 10.1007/s00223-019-00547-8. PMID: 31069441
Fibrogenesis Imperfecta Ossium and Response to Human Growth Hormone: A Potential Therapy.
Bhadada SK, Dhiman V, Mukherjee S, Aggarwal S, Bal A, Sukumar SP, Sood A, Sharma DC, Khandelwal N, Bhansali A, Van Hul W, Rao SD
J Clin Endocrinol Metab 2017 May 1;102(5):1750-1756. doi: 10.1210/jc.2016-3055. PMID: 28323922
Fibrogenesis imperfecta ossium with early onset: observations after 20 years of illness.
Lang R, Vignery AM, Jensen PS
Bone 1986;7(4):237-46. doi: 10.1016/8756-3282(86)90202-4. PMID: 3490268

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