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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

Zhou Y, Chen G, Li F, Huang L, Han J
Congenit Anom (Kyoto) 2024 Mar;64(2):61-62. Epub 2024 Feb 18 doi: 10.1111/cga.12554. PMID: 38369333
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Nicolaides KH, Johansson D, Donnai D, Rodeck CH
Prenat Diagn 1984 May-Jun;4(3):201-5. doi: 10.1002/pd.1970040307. PMID: 6463027

Recent clinical studies

Etiology

Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
Friede H
Acta Odontol Scand 1995 Jun;53(3):203-9. doi: 10.3109/00016359509005973. PMID: 7572098
Proudman TW, Moore MH, Abbott AH, David DJ
J Craniofac Surg 1994 Sep;5(4):218-22. doi: 10.1097/00001665-199409000-00004. PMID: 7833394
Golabi M, Edwards MS, Ousterhout DK
Neurosurgery 1987 Jul;21(1):63-7. doi: 10.1227/00006123-198707000-00013. PMID: 3614607
Freihofer HP Jr
J Maxillofac Surg 1973 Mar;1(1):30-6. doi: 10.1016/s0301-0503(73)80009-8. PMID: 4521445

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
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
Dicus Brookes C, Golden BA, Turvey TA
Atlas Oral Maxillofac Surg Clin North Am 2014 Sep;22(2):103-10. doi: 10.1016/j.cxom.2014.04.001. PMID: 25171992
GORLIN RJ, JUE KL, JACOBSEN U, GOLDSCHMIDT E
J Pediatr 1963 Nov;63:991-9. doi: 10.1016/s0022-3476(63)80233-4. PMID: 14071056

Therapy

Neophytou P, Artemiadis A, Hadjigeorgiou GM, Zis P
Acta Neurol Belg 2023 Oct;123(5):1693-1701. Epub 2023 Jul 19 doi: 10.1007/s13760-023-02336-5. PMID: 37468803Free PMC Article
Matsuo K, Taniguchi K, Hamamoto H, Inomata Y, Komura K, Tanaka T, Lee SW, Uchiyama K
Cancer Sci 2021 Aug;112(8):2984-2992. Epub 2021 Jun 30 doi: 10.1111/cas.15017. PMID: 34107132Free PMC Article
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
Jefferies JL, Kim JJ, Belmont JW, Friedman RA
Tex Heart Inst J 2009;36(4):349-51. PMID: 19693314Free PMC Article
Poswillo DE
Proc R Soc Med 1974 May;67(5):343-9. PMID: 4835278Free PMC Article

Prognosis

Neophytou P, Artemiadis A, Hadjigeorgiou GM, Zis P
Acta Neurol Belg 2023 Oct;123(5):1693-1701. Epub 2023 Jul 19 doi: 10.1007/s13760-023-02336-5. PMID: 37468803Free PMC Article
Shah UK, Miller EG, Levy C
Int J Pediatr Otorhinolaryngol 2018 Oct;113:22-25. Epub 2018 Jul 11 doi: 10.1016/j.ijporl.2018.07.016. PMID: 30173990
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article
Golabi M, Edwards MS, Ousterhout DK
Neurosurgery 1987 Jul;21(1):63-7. doi: 10.1227/00006123-198707000-00013. PMID: 3614607
Freihofer HP Jr
J Maxillofac Surg 1973 Mar;1(1):30-6. doi: 10.1016/s0301-0503(73)80009-8. PMID: 4521445

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
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
Huber C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):165-74. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31336. PMID: 22791528

Recent systematic reviews

Neophytou P, Artemiadis A, Hadjigeorgiou GM, Zis P
Acta Neurol Belg 2023 Oct;123(5):1693-1701. Epub 2023 Jul 19 doi: 10.1007/s13760-023-02336-5. PMID: 37468803Free 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
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
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

Supplemental Content

Table of contents

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