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Absent ossification of cervical vertebral bodies

MedGen UID:
870661
Concept ID:
C4025115
Finding
HPO: HP:0005885

Definition

A lack of bone mineralization of one or more body of cervical vertebra. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent ossification of cervical vertebral bodies

Professional guidelines

PubMed

Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q
Clin Chim Acta 2008 Jan;387(1-2):153-7. Epub 2007 Sep 18 doi: 10.1016/j.cca.2007.09.006. PMID: 17920052

Recent clinical studies

Etiology

Scottoline B, Rosenthal S, Keisari R, Kirpekar R, Angell C, Wallerstein R
Am J Med Genet A 2012 Jun;158A(6):1447-51. Epub 2012 May 11 doi: 10.1002/ajmg.a.35352. PMID: 22581610
Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q
Clin Chim Acta 2008 Jan;387(1-2):153-7. Epub 2007 Sep 18 doi: 10.1016/j.cca.2007.09.006. PMID: 17920052

Diagnosis

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
Scottoline B, Rosenthal S, Keisari R, Kirpekar R, Angell C, Wallerstein R
Am J Med Genet A 2012 Jun;158A(6):1447-51. Epub 2012 May 11 doi: 10.1002/ajmg.a.35352. PMID: 22581610
Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q
Clin Chim Acta 2008 Jan;387(1-2):153-7. Epub 2007 Sep 18 doi: 10.1016/j.cca.2007.09.006. PMID: 17920052
Seller MJ, Berry AC, Maxwell D, McLennan A, Hall CM
Clin Dysmorphol 1996 Jul;5(3):213-5. PMID: 8818449

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
Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q
Clin Chim Acta 2008 Jan;387(1-2):153-7. Epub 2007 Sep 18 doi: 10.1016/j.cca.2007.09.006. PMID: 17920052
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
Gonzales M, Verloes A, Saint Frison MH, Perrotez C, Bourdet O, Encha-Razavi F, Joyé N, Taillemite JL, Walbaum R, Pfeiffer R, Maroteaux P
Am J Med Genet A 2005 Aug 1;136A(4):373-6. doi: 10.1002/ajmg.a.30537. PMID: 15988748

Clinical prediction guides

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
Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q
Clin Chim Acta 2008 Jan;387(1-2):153-7. Epub 2007 Sep 18 doi: 10.1016/j.cca.2007.09.006. PMID: 17920052
Streda A, Trnavský K, Pazderka V, Bardfeld R
Acta Univ Carol Med Monogr 1989;133:1-127. PMID: 2486228

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