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Osteochondrodysplasia

MedGen UID:
10495
Concept ID:
C0029422
Disease or Syndrome
Synonym: Osteochondrodysplasias
SNOMED CT: Osteochondrodysplasia syndrome (105985007)
 
Monarch Initiative: MONDO:0005516

Definition

A term referring to disorders characterized by abnormalities in the development of bones and cartilage. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Sarac Sivrikoz T, Kalayci T, Senturk L, Karaman V, Kalelioglu IH, Has R, Kayserili H, Uyguner ZO, Nishimura G, Altunoglu U
Prenat Diagn 2022 Nov;42(12):1503-1510. Epub 2022 Jul 20 doi: 10.1002/pd.6208. PMID: 35808914
Berceanu C, Gheonea IA, Vlădăreanu S, Cîrstoiu MM, Vlădăreanu R, Mehedinţu C, Berceanu S, Ciortea R, Brătilă E
Med Ultrason 2017 Jan 31;19(1):66-72. doi: 10.11152/mu-922. PMID: 28180199
Ireland PJ, Johnson S, Donaghey S, Johnston L, Ware RS, Zankl A, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, McGill J
J Paediatr Child Health 2012 May;48(5):443-9. Epub 2011 Nov 23 doi: 10.1111/j.1440-1754.2011.02255.x. PMID: 22112170

Recent clinical studies

Etiology

Yang DD, Rio M, Michot C, Boddaert N, Yacoub W, Garcelon N, Thierry B, Bonnet D, Rondeau S, Herve D, Guey S, Angoulvant F, Cormier-Daire V
Orphanet J Rare Dis 2022 Jul 30;17(1):304. doi: 10.1186/s13023-022-02447-x. PMID: 35907855Free PMC Article
Mäkitie RE, Toiviainen-Salo S, Kaitila I, Mäkitie O
Front Endocrinol (Lausanne) 2022;13:845889. Epub 2022 Mar 3 doi: 10.3389/fendo.2022.845889. PMID: 35311234Free PMC Article
Jurcă MC, Jurcă SI, Mirodot F, Bercea B, Severin EM, Bembea M, Jurcă AD
Rom J Morphol Embryol 2021 Jul-Sep;62(3):689-696. doi: 10.47162/RJME.62.3.05. PMID: 35263396Free PMC Article
Uttarilli A, Shah H, Shukla A, Girisha KM
J Postgrad Med 2018 Apr-Jun;64(2):98-103. doi: 10.4103/jpgm.JPGM_527_17. PMID: 29692401Free PMC Article
Schoch B, Werthel JD, Sanchez-Sotelo J, Sperling JW, Cofield RH, Morrey M
Int Orthop 2017 Oct;41(10):2129-2134. Epub 2017 Aug 7 doi: 10.1007/s00264-017-3588-x. PMID: 28782076

Diagnosis

Sarac Sivrikoz T, Kalayci T, Senturk L, Karaman V, Kalelioglu IH, Has R, Kayserili H, Uyguner ZO, Nishimura G, Altunoglu U
Prenat Diagn 2022 Nov;42(12):1503-1510. Epub 2022 Jul 20 doi: 10.1002/pd.6208. PMID: 35808914
Roessler HI, Shields K, Grange DK, Knoers NVAM, van Haaften G, Hammond P, van Haelst MM
Am J Med Genet A 2020 May;182(5):1041-1052. Epub 2020 Feb 26 doi: 10.1002/ajmg.a.61517. PMID: 32100467Free PMC Article
Liu A, McEntee J
Pediatr Rev 2019 Aug;40(8):435-438. doi: 10.1542/pir.2017-0340. PMID: 31371639
Lewis LE, Ramesh Bhat Y, Naik P, Sethi K, Girisha KM
Indian J Pediatr 2010 May;77(5):567-8. Epub 2010 Mar 19 doi: 10.1007/s12098-010-0043-z. PMID: 20422326
Stanescu V, Stanescu R, Maroteaux P
J Bone Joint Surg Am 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. PMID: 6376516

Therapy

Ouedraogo ZG, Janel C, Janin A, Millat G, Langlais S, Pontier B, Biard M, Lepage M, Francannet C, Laffargue F, Creveaux I
Genes (Basel) 2024 Feb 10;15(2) doi: 10.3390/genes15020225. PMID: 38397214Free PMC Article
Tise CG, Perry JA, Anforth LE, Pavlovich MA, Backman JD, Ryan KA, Lewis JP, O'Connell JR, Yerges-Armstrong LM, Shuldiner AR
G3 (Bethesda) 2016 Sep 8;6(9):2909-18. doi: 10.1534/g3.116.032979. PMID: 27412988Free PMC Article
Menezes AH
Childs Nerv Syst 2008 Oct;24(10):1169-72. Epub 2008 Apr 10 doi: 10.1007/s00381-008-0602-z. PMID: 18401562
Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP
J Med Genet 2007 Feb;44(2):89-98. Epub 2006 Jun 26 doi: 10.1136/jmg.2006.043687. PMID: 16801345Free PMC Article
Chiavetta JB, Parvizi J, Shaughnessy WJ, Cabanela ME
J Bone Joint Surg Am 2004 Feb;86(2):298-304. doi: 10.2106/00004623-200402000-00012. PMID: 14960674

Prognosis

Mäkitie RE, Toiviainen-Salo S, Kaitila I, Mäkitie O
Front Endocrinol (Lausanne) 2022;13:845889. Epub 2022 Mar 3 doi: 10.3389/fendo.2022.845889. PMID: 35311234Free PMC Article
Jurcă MC, Jurcă SI, Mirodot F, Bercea B, Severin EM, Bembea M, Jurcă AD
Rom J Morphol Embryol 2021 Jul-Sep;62(3):689-696. doi: 10.47162/RJME.62.3.05. PMID: 35263396Free PMC Article
Sawai H, Oka K, Ushioda M, Nishimura G, Omori T, Numabe H, Kosugi S
Pediatr Int 2019 Aug;61(8):748-753. Epub 2019 Aug 27 doi: 10.1111/ped.13927. PMID: 31247124Free PMC Article
Schoch B, Werthel JD, Sanchez-Sotelo J, Sperling JW, Cofield RH, Morrey M
Int Orthop 2017 Oct;41(10):2129-2134. Epub 2017 Aug 7 doi: 10.1007/s00264-017-3588-x. PMID: 28782076
Stanescu V, Stanescu R, Maroteaux P
J Bone Joint Surg Am 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. PMID: 6376516

Clinical prediction guides

Mäkitie RE, Toiviainen-Salo S, Kaitila I, Mäkitie O
Front Endocrinol (Lausanne) 2022;13:845889. Epub 2022 Mar 3 doi: 10.3389/fendo.2022.845889. PMID: 35311234Free PMC Article
Bhattacharya S, Li J, Sockell A, Kan MJ, Bava FA, Chen SC, Ávila-Arcos MC, Ji X, Smith E, Asadi NB, Lachman RS, Lam HYK, Bustamante CD, Butte AJ, Nolan GP
Genome Res 2018 Apr;28(4):423-431. Epub 2018 Mar 22 doi: 10.1101/gr.223693.117. PMID: 29567674Free PMC Article
Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC
Am J Med Genet A 2011 May;155A(5):1021-32. Epub 2011 Apr 4 doi: 10.1002/ajmg.a.33892. PMID: 21465651
Lewis LE, Ramesh Bhat Y, Naik P, Sethi K, Girisha KM
Indian J Pediatr 2010 May;77(5):567-8. Epub 2010 Mar 19 doi: 10.1007/s12098-010-0043-z. PMID: 20422326
Stevens JW
Iowa Orthop J 1999;19:53-65. PMID: 10847517Free PMC Article

Recent systematic reviews

Ireland P, Johnston LM
Phys Occup Ther Pediatr 2012 Feb;32(1):80-96. Epub 2011 Jul 6 doi: 10.3109/01942638.2011.593619. PMID: 21728924

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