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Inherited Osteolysis Syndrome

MedGen UID:
1732044
Concept ID:
C5418758
Disease or Syndrome

Definition

A genetically heterogenous group of disorders characterized by loss of bone tissue. [from NCI]

Term Hierarchy

Recent clinical studies

Etiology

Duraiswamy G, Ashraf M, Sambandam SN, Shanmugasundaram S
JBJS Case Connect 2021 May 21;11(2) doi: 10.2106/JBJS.CC.20.00711. PMID: 34019492
Mosig RA, Dowling O, DiFeo A, Ramirez MC, Parker IC, Abe E, Diouri J, Aqeel AA, Wylie JD, Oblander SA, Madri J, Bianco P, Apte SS, Zaidi M, Doty SB, Majeska RJ, Schaffler MB, Martignetti JA
Hum Mol Genet 2007 May 1;16(9):1113-23. Epub 2007 Mar 30 doi: 10.1093/hmg/ddm060. PMID: 17400654Free PMC Article
Daroszewska A, Ralston SH
Clin Sci (Lond) 2005 Sep;109(3):257-63. doi: 10.1042/CS20050053. PMID: 16104845
Matthiesen G, Pedersen VF, Helin P, Jacobsen GK, Nielsen NS
Int Orthop 2001;25(5):331-3. doi: 10.1007/s002640100276. PMID: 11794271Free PMC Article
Martignetti JA, Aqeel AA, Sewairi WA, Boumah CE, Kambouris M, Mayouf SA, Sheth KV, Eid WA, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ
Nat Genet 2001 Jul;28(3):261-5. doi: 10.1038/90100. PMID: 11431697

Diagnosis

Markatos K, Mavrogenis AF, Karamanou M, Androutsos G
Eur J Orthop Surg Traumatol 2018 Dec;28(8):1569-1572. Epub 2018 May 24 doi: 10.1007/s00590-018-2233-8. PMID: 29797092
Canalis E, Zanotti S
Orphanet J Rare Dis 2014 Dec 10;9:200. doi: 10.1186/s13023-014-0200-y. PMID: 25491639Free PMC Article
Matthiesen G, Pedersen VF, Helin P, Jacobsen GK, Nielsen NS
Int Orthop 2001;25(5):331-3. doi: 10.1007/s002640100276. PMID: 11794271Free PMC Article
Al-Mayouf SM, Majeed M, Hugosson C, Bahabri S
Am J Med Genet 2000 Jul 3;93(1):5-10. doi: 10.1002/1096-8628(20000703)93:1<5::aid-ajmg2>3.0.co;2-y. PMID: 10861675
Erickson CM, Hirschberger M, Stickler GB
J Pediatr 1978 Nov;93(5):779-82. doi: 10.1016/s0022-3476(78)81076-2. PMID: 712480

Therapy

Kim KJ, Hong N, Lee S, Shin S, Rhee Y
Osteoporos Int 2023 May;34(5):1005-1009. Epub 2023 Jan 9 doi: 10.1007/s00198-023-06668-z. PMID: 36622389
Canalis E, Zanotti S
Orphanet J Rare Dis 2014 Dec 10;9:200. doi: 10.1186/s13023-014-0200-y. PMID: 25491639Free PMC Article
Drake WM, Hiorns MP, Kendler DL
J Bone Miner Res 2003 Jan;18(1):131-3. doi: 10.1359/jbmr.2003.18.1.131. PMID: 12510814
Matthiesen G, Pedersen VF, Helin P, Jacobsen GK, Nielsen NS
Int Orthop 2001;25(5):331-3. doi: 10.1007/s002640100276. PMID: 11794271Free PMC Article
Verloes A, Curry C, Jamar M, Herens C, O'Lague P, Marks J, Sarda P, Blanchet P
J Med Genet 1998 Nov;35(11):943-7. doi: 10.1136/jmg.35.11.943. PMID: 9832043Free PMC Article

Prognosis

Jirečková J, Magner M, Lambert L, Baxová A, Leiská A, Kopečková L, Fajkusová L, Zeman J
Prague Med Rep 2018;119(4):156-164. doi: 10.14712/23362936.2019.3. PMID: 30779700
Palav S, Vernekar J, Pereira S, Desai A
J Radiol Case Rep 2014 Sep;8(9):1-8. Epub 2014 Sep 30 doi: 10.3941/jrcr.v8i9.1833. PMID: 25426244Free PMC Article
Al-Aqeel AI
Saudi Med J 2005 Jan;26(1):24-30. PMID: 15756348
Matthiesen G, Pedersen VF, Helin P, Jacobsen GK, Nielsen NS
Int Orthop 2001;25(5):331-3. doi: 10.1007/s002640100276. PMID: 11794271Free PMC Article
Leidig-Bruckner G, Pfeilschifter J, Penning N, Limberg B, Priemel M, Delling G, Ziegler R
J Bone Miner Res 1999 Dec;14(12):2036-41. doi: 10.1359/jbmr.1999.14.12.2036. PMID: 10620062

Clinical prediction guides

Jirečková J, Magner M, Lambert L, Baxová A, Leiská A, Kopečková L, Fajkusová L, Zeman J
Prague Med Rep 2018;119(4):156-164. doi: 10.14712/23362936.2019.3. PMID: 30779700
Markatos K, Mavrogenis AF, Karamanou M, Androutsos G
Eur J Orthop Surg Traumatol 2018 Dec;28(8):1569-1572. Epub 2018 May 24 doi: 10.1007/s00590-018-2233-8. PMID: 29797092
Bazopoulou-Kyrkanidou E, Vrahopoulos TP, Eliades G, Vastardis H, Tosios K, Vrotsos IA
J Periodontol 2007 Sep;78(9):1831-8. doi: 10.1902/jop.2007.060385. PMID: 17760556
Al-Aqeel AI
Saudi Med J 2005 Jan;26(1):24-30. PMID: 15756348
Leidig-Bruckner G, Pfeilschifter J, Penning N, Limberg B, Priemel M, Delling G, Ziegler R
J Bone Miner Res 1999 Dec;14(12):2036-41. doi: 10.1359/jbmr.1999.14.12.2036. PMID: 10620062

Recent systematic reviews

Cortés-Martín J, Díaz-Rodríguez L, Piqueras-Sola B, Rodríguez-Blanque R, Bermejo-Fernández A, Sánchez-García JC
Int J Environ Res Public Health 2020 Aug 25;17(17) doi: 10.3390/ijerph17176174. PMID: 32854429Free PMC Article

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