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Primary bone dysplasia with decreased bone density

MedGen UID:
1842974
Concept ID:
C5680273
Disease or Syndrome
Synonyms: Primary osteodysplasia with decreased bone density; Primary skeletal dysplasia with decreased bone density
 
Orphanet: ORPHA93446

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary bone dysplasia with decreased bone density

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

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
Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, Nielson CM, Walter K, Pettersson-Kymmer U, McCarthy S, Eriksson J, Kwan T, Jhamai M, Trajanoska K, Memari Y, Min J, Huang J, Danecek P, Wilmot B, Li R, Chou WC, Mokry LE, Moayyeri A, Claussnitzer M, Cheng CH, Cheung W, Medina-Gómez C, Ge B, Chen SH, Choi K, Oei L, Fraser J, Kraaij R, Hibbs MA, Gregson CL, Paquette D, Hofman A, Wibom C, Tranah GJ, Marshall M, Gardiner BB, Cremin K, Auer P, Hsu L, Ring S, Tung JY, Thorleifsson G, Enneman AW, van Schoor NM, de Groot LC, van der Velde N, Melin B, Kemp JP, Christiansen C, Sayers A, Zhou Y, Calderari S, van Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden AG, Williams SR, Farber C, Grinberg D, LaCroix AZ, Haessler J, Chasman DI, Giulianini F, Rose LM, Ridker PM, Eisman JA, Nguyen TV, Center JR, Nogues X, Garcia-Giralt N, Launer LL, Gudnason V, Mellström D, Vandenput L, Amin N, van Duijn CM, Karlsson MK, Ljunggren Ö, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussière J, Arp PP, Koromani F, Prince RL, Lewis JR, Langdahl BL, Hermann AP, Jensen JE, Kaptoge S, Khaw KT, Reeve J, Formosa MM, Xuereb-Anastasi A, Åkesson K, McGuigan FE, Garg G, Olmos JM, Zarrabeitia MT, Riancho JA, Ralston SH, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll ES, Karasik D, Davey-Smith G; AOGC Consortium, Smith AV, Siggeirsdottir K, Harris TB, Zillikens MC, van Meurs JB, Thorsteinsdottir U, Maurano MT, Timpson NJ, Soranzo N, Durbin R, Wilson SG, Ntzani EE, Brown MA, Stefansson K, Hinds DA, Spector T, Cupples LA, Ohlsson C, Greenwood CM; UK10K Consortium, Jackson RD, Rowe DW, Loomis CA, Evans DM, Ackert-Bicknell CL, Joyner AL, Duncan EL, Kiel DP, Rivadeneira F, Richards JB
Nature 2015 Oct 1;526(7571):112-7. Epub 2015 Sep 14 doi: 10.1038/nature14878. PMID: 26367794Free PMC Article
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
Landesberg R, Eisig S, Fennoy I, Siris E
J Oral Maxillofac Surg 2009 May;67(5 Suppl):27-34. doi: 10.1016/j.joms.2008.12.006. PMID: 19371812
Phillipi CA, Remmington T, Steiner RD
Cochrane Database Syst Rev 2008 Oct 8;(4):CD005088. doi: 10.1002/14651858.CD005088.pub2. PMID: 18843680

Diagnosis

Baek SH, Kim KH, Lee WK, Hong W, Won H, Kim SY
J Bone Joint Surg Am 2022 Apr 6;104(Suppl 2):19-24. doi: 10.2106/JBJS.20.00520. PMID: 35389903
Just A, Adams S, Brinkmeier T, Barsegian V, Lorenzen J, Schilling F, Frosch P
J Dtsch Dermatol Ges 2008 Aug;6(8):657-60. Epub 2008 Feb 6 doi: 10.1111/j.1610-0387.2008.06588.x. PMID: 18266863
Chevrel G, Schott AM, Fontanges E, Charrin JE, Lina-Granade G, Duboeuf F, Garnero P, Arlot M, Raynal C, Meunier PJ
J Bone Miner Res 2006 Feb;21(2):300-6. Epub 2005 Oct 24 doi: 10.1359/JBMR.051015. PMID: 16418786
Boechat MI, Westra SJ, Van Dop C, Kaufman F, Gilsanz V, Roe TF
Metabolism 1996 Jan;45(1):76-81. doi: 10.1016/s0026-0495(96)90203-6. PMID: 8544781
Menon PS, Madhavi N, Mukhopadhyaya S, Padhy AK, Bal CS, Sharma LK
J Paediatr Child Health 1994 Oct;30(5):441-3. doi: 10.1111/j.1440-1754.1994.tb00698.x. PMID: 7833084

Therapy

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
Hendriks LE, Hermans BC, van den Beuken-van Everdingen MH, Hochstenbag MM, Dingemans AM
J Thorac Oncol 2016 Feb;11(2):155-73. Epub 2015 Dec 22 doi: 10.1016/j.jtho.2015.10.001. PMID: 26718881
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
Landesberg R, Eisig S, Fennoy I, Siris E
J Oral Maxillofac Surg 2009 May;67(5 Suppl):27-34. doi: 10.1016/j.joms.2008.12.006. PMID: 19371812
Phillipi CA, Remmington T, Steiner RD
Cochrane Database Syst Rev 2008 Oct 8;(4):CD005088. doi: 10.1002/14651858.CD005088.pub2. PMID: 18843680

Prognosis

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
Zirngibl RA, Wang A, Yao Y, Manolson MF, Krueger J, Dupuis L, Mendoza-Londono R, Voronov I
J Cell Biochem 2019 Oct;120(10):17180-17193. Epub 2019 May 20 doi: 10.1002/jcb.28979. PMID: 31111556
Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, Nielson CM, Walter K, Pettersson-Kymmer U, McCarthy S, Eriksson J, Kwan T, Jhamai M, Trajanoska K, Memari Y, Min J, Huang J, Danecek P, Wilmot B, Li R, Chou WC, Mokry LE, Moayyeri A, Claussnitzer M, Cheng CH, Cheung W, Medina-Gómez C, Ge B, Chen SH, Choi K, Oei L, Fraser J, Kraaij R, Hibbs MA, Gregson CL, Paquette D, Hofman A, Wibom C, Tranah GJ, Marshall M, Gardiner BB, Cremin K, Auer P, Hsu L, Ring S, Tung JY, Thorleifsson G, Enneman AW, van Schoor NM, de Groot LC, van der Velde N, Melin B, Kemp JP, Christiansen C, Sayers A, Zhou Y, Calderari S, van Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden AG, Williams SR, Farber C, Grinberg D, LaCroix AZ, Haessler J, Chasman DI, Giulianini F, Rose LM, Ridker PM, Eisman JA, Nguyen TV, Center JR, Nogues X, Garcia-Giralt N, Launer LL, Gudnason V, Mellström D, Vandenput L, Amin N, van Duijn CM, Karlsson MK, Ljunggren Ö, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussière J, Arp PP, Koromani F, Prince RL, Lewis JR, Langdahl BL, Hermann AP, Jensen JE, Kaptoge S, Khaw KT, Reeve J, Formosa MM, Xuereb-Anastasi A, Åkesson K, McGuigan FE, Garg G, Olmos JM, Zarrabeitia MT, Riancho JA, Ralston SH, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll ES, Karasik D, Davey-Smith G; AOGC Consortium, Smith AV, Siggeirsdottir K, Harris TB, Zillikens MC, van Meurs JB, Thorsteinsdottir U, Maurano MT, Timpson NJ, Soranzo N, Durbin R, Wilson SG, Ntzani EE, Brown MA, Stefansson K, Hinds DA, Spector T, Cupples LA, Ohlsson C, Greenwood CM; UK10K Consortium, Jackson RD, Rowe DW, Loomis CA, Evans DM, Ackert-Bicknell CL, Joyner AL, Duncan EL, Kiel DP, Rivadeneira F, Richards JB
Nature 2015 Oct 1;526(7571):112-7. Epub 2015 Sep 14 doi: 10.1038/nature14878. PMID: 26367794Free PMC Article
Bradbury LA, Barlow S, Geoghegan F, Hannon RA, Stuckey SL, Wass JA, Russell RG, Brown MA, Duncan EL
Osteoporos Int 2012 Jan;23(1):285-94. Epub 2011 Jul 8 doi: 10.1007/s00198-011-1658-2. PMID: 21739105
DiMeglio LA, Peacock M
J Bone Miner Res 2006 Jan;21(1):132-40. Epub 2005 Oct 17 doi: 10.1359/JBMR.051006. PMID: 16355282

Clinical prediction guides

Al Kaissi A, Misof BM, Laccone F, Blouin S, Roschger P, Kircher SG, Shboul M, Mindler GT, Girsch W, Ganger R
Calcif Tissue Int 2021 Nov;109(5):586-595. Epub 2021 May 18 doi: 10.1007/s00223-021-00862-z. PMID: 34003338
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
Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, Nielson CM, Walter K, Pettersson-Kymmer U, McCarthy S, Eriksson J, Kwan T, Jhamai M, Trajanoska K, Memari Y, Min J, Huang J, Danecek P, Wilmot B, Li R, Chou WC, Mokry LE, Moayyeri A, Claussnitzer M, Cheng CH, Cheung W, Medina-Gómez C, Ge B, Chen SH, Choi K, Oei L, Fraser J, Kraaij R, Hibbs MA, Gregson CL, Paquette D, Hofman A, Wibom C, Tranah GJ, Marshall M, Gardiner BB, Cremin K, Auer P, Hsu L, Ring S, Tung JY, Thorleifsson G, Enneman AW, van Schoor NM, de Groot LC, van der Velde N, Melin B, Kemp JP, Christiansen C, Sayers A, Zhou Y, Calderari S, van Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden AG, Williams SR, Farber C, Grinberg D, LaCroix AZ, Haessler J, Chasman DI, Giulianini F, Rose LM, Ridker PM, Eisman JA, Nguyen TV, Center JR, Nogues X, Garcia-Giralt N, Launer LL, Gudnason V, Mellström D, Vandenput L, Amin N, van Duijn CM, Karlsson MK, Ljunggren Ö, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussière J, Arp PP, Koromani F, Prince RL, Lewis JR, Langdahl BL, Hermann AP, Jensen JE, Kaptoge S, Khaw KT, Reeve J, Formosa MM, Xuereb-Anastasi A, Åkesson K, McGuigan FE, Garg G, Olmos JM, Zarrabeitia MT, Riancho JA, Ralston SH, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll ES, Karasik D, Davey-Smith G; AOGC Consortium, Smith AV, Siggeirsdottir K, Harris TB, Zillikens MC, van Meurs JB, Thorsteinsdottir U, Maurano MT, Timpson NJ, Soranzo N, Durbin R, Wilson SG, Ntzani EE, Brown MA, Stefansson K, Hinds DA, Spector T, Cupples LA, Ohlsson C, Greenwood CM; UK10K Consortium, Jackson RD, Rowe DW, Loomis CA, Evans DM, Ackert-Bicknell CL, Joyner AL, Duncan EL, Kiel DP, Rivadeneira F, Richards JB
Nature 2015 Oct 1;526(7571):112-7. Epub 2015 Sep 14 doi: 10.1038/nature14878. PMID: 26367794Free PMC Article
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
Phillipi CA, Remmington T, Steiner RD
Cochrane Database Syst Rev 2008 Oct 8;(4):CD005088. doi: 10.1002/14651858.CD005088.pub2. PMID: 18843680

Recent systematic reviews

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
Hendriks LE, Hermans BC, van den Beuken-van Everdingen MH, Hochstenbag MM, Dingemans AM
J Thorac Oncol 2016 Feb;11(2):155-73. Epub 2015 Dec 22 doi: 10.1016/j.jtho.2015.10.001. PMID: 26718881
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
Phillipi CA, Remmington T, Steiner RD
Cochrane Database Syst Rev 2008 Oct 8;(4):CD005088. doi: 10.1002/14651858.CD005088.pub2. PMID: 18843680

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