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Delayed ossification of vertebral epiphysis

MedGen UID:
868365
Concept ID:
C4022759
Anatomical Abnormality
Synonym: Delayed maturation of the end part of the vertebral bone
 
HPO: HP:0012711

Definition

A delay in the process of formation and maturation of the epiphysis of one or more vertebrae. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelayed ossification of vertebral epiphysis

Recent clinical studies

Etiology

Elhossini RM, Ahmed HA, Otaify G, Ghorab RM, Amr K, Aglan M
Am J Med Genet A 2022 Oct;188(10):2861-2868. Epub 2022 Aug 11 doi: 10.1002/ajmg.a.62933. PMID: 36097642
Ceroni JRM, Spolador GM, Bermeo DS, Honjo RS, de Oliveira LAN, Bertola DR, Kim CA
Skeletal Radiol 2019 Aug;48(8):1201-1207. Epub 2019 Feb 2 doi: 10.1007/s00256-019-3159-x. PMID: 30712120
Makino T, Kaito T, Sakai Y, Kashii M, Yoshikawa H
Bone Joint J 2016 May;98-B(5):666-71. doi: 10.1302/0301-620X.98B5.37133. PMID: 27143739
Kotwicki T
Eur Spine J 2008 Dec;17(12):1676-85. Epub 2008 Oct 23 doi: 10.1007/s00586-008-0794-7. PMID: 18946691Free PMC Article
Maroteaux P, Stanescu V, Stanescu R
Eur J Pediatr 1983 Oct;141(1):14-22. doi: 10.1007/BF00445662. PMID: 6641761

Diagnosis

Uludağ Alkaya D, Taner HE, Yıldırım T, Akpınar E, Tüysüz B
Am J Med Genet A 2024 Aug;194(8):e63635. Epub 2024 Apr 18 doi: 10.1002/ajmg.a.63635. PMID: 38634625
Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Wu Z, Wu N
BMC Med Genet 2020 May 27;21(1):115. doi: 10.1186/s12881-020-01040-y. PMID: 32460719Free PMC Article
Ceroni JRM, Spolador GM, Bermeo DS, Honjo RS, de Oliveira LAN, Bertola DR, Kim CA
Skeletal Radiol 2019 Aug;48(8):1201-1207. Epub 2019 Feb 2 doi: 10.1007/s00256-019-3159-x. PMID: 30712120
Peck SH, O'Donnell PJ, Kang JL, Malhotra NR, Dodge GR, Pacifici M, Shore EM, Haskins ME, Smith LJ
Mol Genet Metab 2015 Nov;116(3):195-203. Epub 2015 Sep 26 doi: 10.1016/j.ymgme.2015.09.008. PMID: 26422116Free PMC Article
Maroteaux P, Stanescu V, Stanescu R
Eur J Pediatr 1983 Oct;141(1):14-22. doi: 10.1007/BF00445662. PMID: 6641761

Prognosis

Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571
Kotwicki T
Eur Spine J 2008 Dec;17(12):1676-85. Epub 2008 Oct 23 doi: 10.1007/s00586-008-0794-7. PMID: 18946691Free PMC Article
Kranz C, Basinger AA, Güçsavaş-Calikoğlu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH
Am J Med Genet A 2007 Jun 15;143A(12):1371-8. doi: 10.1002/ajmg.a.31791. PMID: 17506107

Clinical prediction guides

Uludağ Alkaya D, Taner HE, Yıldırım T, Akpınar E, Tüysüz B
Am J Med Genet A 2024 Aug;194(8):e63635. Epub 2024 Apr 18 doi: 10.1002/ajmg.a.63635. PMID: 38634625
Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Wu Z, Wu N
BMC Med Genet 2020 May 27;21(1):115. doi: 10.1186/s12881-020-01040-y. PMID: 32460719Free PMC Article
Ceroni JRM, Spolador GM, Bermeo DS, Honjo RS, de Oliveira LAN, Bertola DR, Kim CA
Skeletal Radiol 2019 Aug;48(8):1201-1207. Epub 2019 Feb 2 doi: 10.1007/s00256-019-3159-x. PMID: 30712120
Cohen MM Jr, Kreiborg S
Am J Med Genet 1993 Oct 1;47(5):624-32. doi: 10.1002/ajmg.1320470509. PMID: 8266987
Maroteaux P, Stanescu V, Stanescu R
Eur J Pediatr 1983 Oct;141(1):14-22. doi: 10.1007/BF00445662. PMID: 6641761

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