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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
Trainor PA, Andrews BT
Am J Med Genet C Semin Med Genet 2013 Nov;163C(4):283-94. Epub 2013 Oct 4 doi: 10.1002/ajmg.c.31375. PMID: 24123981Free PMC Article

Recent clinical studies

Etiology

Bautista G
Neoreviews 2021 Apr;22(4):e250-e257. doi: 10.1542/neo.22-4-e250. PMID: 33795400
Cavalcanti DP, Fano V, Mellado C, Lacarrubba-Flores MDJ, Silveira C, Silveira KC, Del Pino M, Moresco A, Caino S, Ramos Mejía R, García CJ, Lay-Son G, Ferreira CR
Am J Med Genet C Semin Med Genet 2020 Dec;184(4):986-995. Epub 2020 Nov 21 doi: 10.1002/ajmg.c.31861. PMID: 33219737Free PMC Article
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091
Patterson MC
Handb Clin Neurol 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. PMID: 23622392
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
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
Ridgway EB, Weiner HL
Pediatr Clin North Am 2004 Apr;51(2):359-87. doi: 10.1016/j.pcl.2003.12.001. PMID: 15062675
Cohen MM Jr
Am J Med Genet Suppl 1988;4:99-148. doi: 10.1002/ajmg.1320310514. PMID: 3144990

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
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
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

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

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
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
Hampl M, Cela P, Szabo-Rogers HL, Kunova Bosakova M, Dosedelova H, Krejci P, Buchtova M
J Dent Res 2017 Aug;96(9):965-974. Epub 2017 Jun 12 doi: 10.1177/0022034517713688. PMID: 28605602Free 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
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
Stater BJ, Oomen KP, Modi VK
JAMA Otolaryngol Head Neck Surg 2015 Jan;141(1):73-7. doi: 10.1001/jamaoto.2014.2790. PMID: 25375853
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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