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Absent ossification of thoracic vertebral bodies

MedGen UID:
868327
Concept ID:
C4022721
Anatomical Abnormality
HPO: HP:0012792

Definition

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

Term Hierarchy

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

Recent clinical studies

Etiology

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
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
Migliazza L, Xia H, Diez-Pardo JA, Tovar JA
J Pediatr Surg 1999 Nov;34(11):1624-9. doi: 10.1016/s0022-3468(99)90630-9. PMID: 10591556

Diagnosis

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
Seller MJ, Berry AC, Maxwell D, McLennan A, Hall CM
Clin Dysmorphol 1996 Jul;5(3):213-5. PMID: 8818449

Prognosis

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

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