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Dysostosis

MedGen UID:
4430
Concept ID:
C0013393
Disease or Syndrome
Synonym: Dysostoses
SNOMED CT: Dysostosis (109420003)
 
Monarch Initiative: MONDO:0018234
Orphanet: ORPHA364559

Definition

A defect in ossification of bone. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDysostosis

Professional guidelines

PubMed

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Al Kaissi A, Ghachem MB, Nabil NM, Kenis V, Melchenko E, Morenko E, Grill F, Ganger R, Kircher SG
Orthop Surg 2018 Aug;10(3):241-246. Epub 2018 Jul 19 doi: 10.1111/os.12382. PMID: 30027601Free PMC Article
Mayer OH
Paediatr Respir Rev 2015 Jan;16(1):30-4. Epub 2014 Nov 5 doi: 10.1016/j.prrv.2014.10.012. PMID: 25434647

Recent clinical studies

Etiology

Raposo-Amaral CE, Ghizoni E, Raposo-Amaral CA
Adv Tech Stand Neurosurg 2023;46:245-266. doi: 10.1007/978-3-031-28202-7_13. PMID: 37318579
Polley JW, Figueroa AA, Girotto JA, Dietze-Fiedler ML
J Craniofac Surg 2022 Jan-Feb 01;33(1):270-275. doi: 10.1097/SCS.0000000000008111. PMID: 34967523
Nicolas-Jilwan M, AlSayed M
Pediatr Radiol 2018 Sep;48(10):1503-1520. Epub 2018 May 11 doi: 10.1007/s00247-018-4139-3. PMID: 29752520
Rogers GF, Greene AK, Proctor MR, Mulliken JB, Goobie SM, Stoler JM
Cleft Palate Craniofac J 2015 Nov;52(6):751-7. Epub 2014 Oct 28 doi: 10.1597/14-092. PMID: 25350344
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775

Diagnosis

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Schramm T, Mommsen H
Ultraschall Med 2018 Dec;39(6):610-634. Epub 2018 Sep 6 doi: 10.1055/a-0660-9417. PMID: 30189431
Wang JC, Nagy L, Demke JC
Facial Plast Surg Clin North Am 2016 Nov;24(4):531-543. doi: 10.1016/j.fsc.2016.06.008. PMID: 27712819
Lansinger Y, Rayan G
J Hand Surg Am 2015 Apr;40(4):851-4. Epub 2014 Dec 24 doi: 10.1016/j.jhsa.2014.10.064. PMID: 25543163

Therapy

Dunaway DJ, Budden C, Ong J, James G, Jeelani NUO
Clin Plast Surg 2021 Jul;48(3):507-519. doi: 10.1016/j.cps.2021.03.004. PMID: 34051902
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091
Dunaway DJ, Britto JA, Abela C, Evans RD, Jeelani NU
Childs Nerv Syst 2012 Sep;28(9):1571-6. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1804-y. PMID: 22872275
White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667
Poswillo DE
Proc R Soc Med 1974 May;67(5):343-9. PMID: 4835278Free PMC Article

Prognosis

W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA
Cleft Palate Craniofac J 2023 Oct;60(10):1267-1272. Epub 2022 May 20 doi: 10.1177/10556656221100675. PMID: 35593077
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article
Cornier AS, Ramirez N, Carlo S, Reiss A
Curr Opin Pediatr 2003 Dec;15(6):614-20. doi: 10.1097/00008480-200312000-00012. PMID: 14631208

Clinical prediction guides

Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN
Am J Hum Genet 2023 May 4;110(5):809-825. Epub 2023 Apr 18 doi: 10.1016/j.ajhg.2023.03.014. PMID: 37075751Free PMC Article
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Watt KEN, Neben CL, Hall S, Merrill AE, Trainor PA
Hum Mol Genet 2018 Aug 1;27(15):2628-2643. doi: 10.1093/hmg/ddy172. PMID: 29750247Free PMC Article
Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198
Silve C, Clauser E, Linglart A
Horm Metab Res 2012 Sep;44(10):749-58. Epub 2012 Jul 19 doi: 10.1055/s-0032-1316330. PMID: 22815067

Recent systematic reviews

Alam MK, Alfawzan AA, Abutayyem H, Kanwal B, Alswairki HJ, Verma S, Ganji KK, Munisekhar MS, Siddiqui AA, Fahim A
Sci Prog 2023 Jan-Mar;106(1):368504231156297. doi: 10.1177/00368504231156297. PMID: 36803068Free PMC Article
Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF
Clin Genet 2023 Feb;103(2):146-155. Epub 2022 Oct 17 doi: 10.1111/cge.14243. PMID: 36203321
Singh A, Pajni K, Panigrahi I, Khetarpal P
Curr Pediatr Rev 2023;19(2):157-168. doi: 10.2174/1573396318666220315142542. PMID: 35293298
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023
Dunaway DJ, Britto JA, Abela C, Evans RD, Jeelani NU
Childs Nerv Syst 2012 Sep;28(9):1571-6. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1804-y. PMID: 22872275

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