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Abnormal vertebral epiphysis morphology

MedGen UID:
866607
•Concept ID:
C4020953
•
Anatomical Abnormality
Synonyms: Abnormal shape of the end part of the vertebra bone; Abnormality of the vertebral epiphyses; Abnormality of vertebral epiphysis morphology
 
HPO: HP:0100734

Definition

An anomaly of one or more epiphyses of one or more vertebrae. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal vertebral epiphysis morphology

Professional guidelines

PubMed

Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.
Blask AR, Rubio EI, Chapman KA, Lawrence AK, Bulas DI
Pediatr Radiol 2018 Jul;48(7):979-991. Epub 2018 Mar 23 doi: 10.1007/s00247-018-4098-8. PMID: 29572747Free PMC Article

Recent clinical studies

Etiology

Skeletal ciliopathies: a pattern recognition approach.
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G
Jpn J Radiol 2020 Mar;38(3):193-206. Epub 2020 Jan 21 doi: 10.1007/s11604-020-00920-w. PMID: 31965514
Growth impairment in mucopolysaccharidoses.
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S
Mol Genet Metab 2018 May;124(1):1-10. Epub 2018 Mar 16 doi: 10.1016/j.ymgme.2018.03.004. PMID: 29627275Free PMC Article
Chondrosarcomas of the hands and feet: A case series and systematic review of the literature.
Fayad LM, Ahlawat S, Khan MS, McCarthy E
Eur J Radiol 2015 Oct;84(10):2004-12. Epub 2015 Jul 2 doi: 10.1016/j.ejrad.2015.06.026. PMID: 26189572
Wolcott-Rallison syndrome.
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free PMC Article
Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559

Diagnosis

Chondrosarcomas of the hands and feet: A case series and systematic review of the literature.
Fayad LM, Ahlawat S, Khan MS, McCarthy E
Eur J Radiol 2015 Oct;84(10):2004-12. Epub 2015 Jul 2 doi: 10.1016/j.ejrad.2015.06.026. PMID: 26189572
Wolcott-Rallison syndrome.
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free PMC Article
Possible case of spondylo-epiphyseal dysplasia in a medieval skeleton.
Wakely J
Clin Anat 2000;13(1):11-6. doi: 10.1002/(SICI)1098-2353(2000)13:1<11::AID-CA3>3.0.CO;2-K. PMID: 10617884
Hip arthrography, aspiration, block, and bursography.
Aliabadi P, Baker ND, Jaramillo D
Radiol Clin North Am 1998 Jul;36(4):673-90. doi: 10.1016/s0033-8389(05)70055-5. PMID: 9673646
Advances in pediatric orthopaedics.
Karlin LI
Curr Opin Rheumatol 1991 Oct;3(5):854-9. doi: 10.1097/00002281-199110000-00017. PMID: 1751319

Therapy

Restoration of Height after 11 Years of Letrozole Treatment in 11β-Hydroxylase Deficiency.
Atay Z, Turan S, Buğdaycı O, Guran T, Bereket A
Horm Res Paediatr 2019;92(3):203-208. Epub 2019 Aug 27 doi: 10.1159/000501456. PMID: 31454824
Accelerated endochondral growth in adolescents with idiopathic scoliosis: a preliminary histomorphometric study.
Zheng X, Wang W, Qian B, Wang S, Zhu Z, Wang B, Sun X, Ding Y, Qiu Y
BMC Musculoskelet Disord 2014 Dec 13;15:429. doi: 10.1186/1471-2474-15-429. PMID: 25494722Free PMC Article
Reconstructive surgery for the post-hemiepiphysiodesis residual deformity in congenital scoliosis.
Tauchi R, Tsuji T, Ohara T, Suzuki Y, Saito T, Nohara A, Sugawara R, Imagama S, Kawakami N
Eur J Orthop Surg Traumatol 2013 Jul;23 Suppl 1:S111-3. Epub 2013 Feb 9 doi: 10.1007/s00590-013-1183-4. PMID: 23412324
Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis.
Arundel P, Offiah A, Bishop NJ
J Bone Miner Res 2011 Apr;26(4):894-8. doi: 10.1002/jbmr.258. PMID: 20872883
Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559

Prognosis

Restoration of Height after 11 Years of Letrozole Treatment in 11β-Hydroxylase Deficiency.
Atay Z, Turan S, Buğdaycı O, Guran T, Bereket A
Horm Res Paediatr 2019;92(3):203-208. Epub 2019 Aug 27 doi: 10.1159/000501456. PMID: 31454824
Growth impairment in mucopolysaccharidoses.
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S
Mol Genet Metab 2018 May;124(1):1-10. Epub 2018 Mar 16 doi: 10.1016/j.ymgme.2018.03.004. PMID: 29627275Free PMC Article
Wolcott-Rallison syndrome.
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free PMC Article
The course of sagittal plane abnormality in the patients with congenital scoliosis managed with convex growth arrest.
Cil A, Yazici M, Alanay A, Acaroglu RE, Uzumcugil A, Surat A
Spine (Phila Pa 1976) 2004 Mar 1;29(5):547-52; discussion 552-3. doi: 10.1097/01.brs.0000106493.54636.b4. PMID: 15129069
Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559

Clinical prediction guides

Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559
Anatomical basics, variations, and degenerative changes of the shoulder joint and shoulder girdle.
Prescher A
Eur J Radiol 2000 Aug;35(2):88-102. doi: 10.1016/s0720-048x(00)00225-4. PMID: 10963915
Possible case of spondylo-epiphyseal dysplasia in a medieval skeleton.
Wakely J
Clin Anat 2000;13(1):11-6. doi: 10.1002/(SICI)1098-2353(2000)13:1<11::AID-CA3>3.0.CO;2-K. PMID: 10617884
Dysspondylochondromatosis.
Freisinger P, Finidori G, Maroteaux P
Am J Med Genet 1993 Feb 15;45(4):460-4. doi: 10.1002/ajmg.1320450413. PMID: 8465851
Skeletal abnormalities in the Apert syndrome.
Cohen MM Jr, Kreiborg S
Am J Med Genet 1993 Oct 1;47(5):624-32. doi: 10.1002/ajmg.1320470509. PMID: 8266987

Recent systematic reviews

Chondrosarcomas of the hands and feet: A case series and systematic review of the literature.
Fayad LM, Ahlawat S, Khan MS, McCarthy E
Eur J Radiol 2015 Oct;84(10):2004-12. Epub 2015 Jul 2 doi: 10.1016/j.ejrad.2015.06.026. PMID: 26189572

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