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Central vertebral hypoplasia

MedGen UID:: 870234
•Concept ID:: C4024672
•: Anatomical Abnormality

HPO:	HP:0008463

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCentral vertebral hypoplasia

Abnormal skeletal morphology
- Abnormal axial skeleton morphology
  - Aplasia/hypoplasia affecting bones of the axial skeleton
    - Aplasia/Hypoplasia involving the vertebral column
      - Aplasia/Hypoplasia of the vertebrae
        Vertebral hypoplasia
        Central vertebral hypoplasia

Conditions with this feature

Spondyloepimetaphyseal dysplasia, Shohat type

MedGen UID:: 400703
•Concept ID:: C1865185
•: Disease or Syndrome

Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is a chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distention with hepatosplenomegaly (summary by Egunsola et al., 2017).

See: Condition Record

Spondyloepimetaphyseal dysplasia, Shohat type

Professional guidelines

PubMed

Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion.

Wang Y, Zhou H, Fu F, Cheng K, Yu Q, Huang R, Lei T, Yang X, Li D, Liao C
Genes (Basel) 2022 Dec 8;13(12) doi: 10.3390/genes13122315. PMID: 36553582 Free PMC Article

Pain in osteoarthritis. Implications for optimal management.

Trouvin AP, Perrot S
Joint Bone Spine 2018 Jul;85(4):429-434. Epub 2017 Sep 6 doi: 10.1016/j.jbspin.2017.08.002. PMID: 28889010

Practice Bulletin No. 187: Neural Tube Defects.

Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693

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Recent clinical studies

Etiology

Parathyroidectomy for adults with primary hyperparathyroidism.

Pappachan JM, Lahart IM, Viswanath AK, Borumandi F, Sodi R, Metzendorf MI, Bongaerts B
Cochrane Database Syst Rev 2023 Mar 8;3(3):CD013035. doi: 10.1002/14651858.CD013035.pub2. PMID: 36883976 Free PMC Article

Pain in osteoarthritis. Implications for optimal management.

Trouvin AP, Perrot S
Joint Bone Spine 2018 Jul;85(4):429-434. Epub 2017 Sep 6 doi: 10.1016/j.jbspin.2017.08.002. PMID: 28889010

The neurology of acutely failing respiratory mechanics.

Wijdicks EFM
Ann Neurol 2017 Apr;81(4):485-494. doi: 10.1002/ana.24908. PMID: 28253561

Histology and pathology of the human intervertebral disc.

Roberts S, Evans H, Trivedi J, Menage J
J Bone Joint Surg Am 2006 Apr;88 Suppl 2:10-4. doi: 10.2106/JBJS.F.00019. PMID: 16595436

Pediatric neurosonography.

Grant EG, White EM
J Child Neurol 1986 Oct;1(4):319-37. doi: 10.1177/088307388600100403. PMID: 3298401

See all (323)

Diagnosis

Practice Bulletin No. 187: Neural Tube Defects.

Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693

Spinal pain.

Izzo R, Popolizio T, D'Aprile P, Muto M
Eur J Radiol 2015 May;84(5):746-56. Epub 2015 Feb 13 doi: 10.1016/j.ejrad.2015.01.018. PMID: 25824642

Spine infections.

Go JL, Rothman S, Prosper A, Silbergleit R, Lerner A
Neuroimaging Clin N Am 2012 Nov;22(4):755-72. Epub 2012 Oct 2 doi: 10.1016/j.nic.2012.06.002. PMID: 23122265

KBG syndrome.

Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996 Free PMC Article

Neuro-osteology.

Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

See all (455)

Therapy

Parathyroidectomy for adults with primary hyperparathyroidism.

Orthopaedic surgery for patients with central nervous system lesions: Concepts and techniques.

Genêt F, Denormandie P, Keenan MA
Ann Phys Rehabil Med 2019 Jul;62(4):225-233. Epub 2018 Oct 2 doi: 10.1016/j.rehab.2018.09.004. PMID: 30290282

Practice Bulletin No. 187: Neural Tube Defects.

Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693

Surgical treatment of cervical kyphosis.

Han K, Lu C, Li J, Xiong GZ, Wang B, Lv GH, Deng YW
Eur Spine J 2011 Apr;20(4):523-36. Epub 2010 Oct 22 doi: 10.1007/s00586-010-1602-8. PMID: 20967471 Free PMC Article

Gonadal dysgenesis and bone metabolism.

Breuil V, Euller-Ziegler L
Joint Bone Spine 2001 Feb;68(1):26-33. doi: 10.1016/s1297-319x(00)00235-9. PMID: 11235777

See all (95)

Prognosis

Cervicothoracic cystic dysraphism.

Valeur NS, Iyer RS, Ishak GE
Pediatr Radiol 2016 Sep;46(10):1471-81. Epub 2016 May 5 doi: 10.1007/s00247-016-3632-9. PMID: 27147079

Spine infections.

Go JL, Rothman S, Prosper A, Silbergleit R, Lerner A
Neuroimaging Clin N Am 2012 Nov;22(4):755-72. Epub 2012 Oct 2 doi: 10.1016/j.nic.2012.06.002. PMID: 23122265

Wolcott-Rallison syndrome.

Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479 Free PMC Article

Histology and pathology of the human intervertebral disc.

Roberts S, Evans H, Trivedi J, Menage J
J Bone Joint Surg Am 2006 Apr;88 Suppl 2:10-4. doi: 10.2106/JBJS.F.00019. PMID: 16595436

Neuro-osteology.

Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

See all (185)

Clinical prediction guides

PHOTORECEPTOR DAMAGE IN TERSON SYNDROME.

Szeligowski T, Fu DJ, Fernandez-Ledo N, Birtel J, Aslam SA, Patel CK, Xue K, Charbel Issa P
Retina 2023 Sep 1;43(9):1557-1562. doi: 10.1097/IAE.0000000000003842. PMID: 37253246

Parathyroidectomy for adults with primary hyperparathyroidism.

Clinical Characteristics of Patients with Vertebral Artery Hypoplasia.

Bakalarz M, Rożniecki JJ, Stasiołek M
Int J Environ Res Public Health 2022 Jul 29;19(15) doi: 10.3390/ijerph19159317. PMID: 35954673 Free PMC Article

Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders.

Cunha AL Jr, Champs APS, Mello CM, Navarro MMM, Godinho FJC, Carvalho CMB, Ferrari TCA
Sci Rep 2021 May 31;11(1):11402. doi: 10.1038/s41598-021-87058-5. PMID: 34059710 Free PMC Article

KBG syndrome.

Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996 Free PMC Article

See all (215)

Recent systematic reviews

Parathyroidectomy for adults with primary hyperparathyroidism.

Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.

Powel JE, Sham CE, Spiliopoulos M, Ferreira CR, Rosenthal E, Sinkovskaya ES, Brown S, Jelin AC, Al-Kouatly HB
Clin Genet 2022 Oct;102(4):262-287. Epub 2022 Jul 21 doi: 10.1111/cge.14188. PMID: 35802600 Free PMC Article

Central nervous system anomalies in craniofacial microsomia: a systematic review.

Renkema RW, Caron CJJM, Wolvius EB, Dunaway DJ, Forrest CR, Padwa BL, Koudstaal MJ
Int J Oral Maxillofac Surg 2018 Jan;47(1):27-34. Epub 2017 Jul 20 doi: 10.1016/j.ijom.2017.06.009. PMID: 28736116

Postural disorders in mouth breathing children: a systematic review.

Neiva PD, Kirkwood RN, Mendes PL, Zabjek K, Becker HG, Mathur S
Braz J Phys Ther 2018 Jan-Feb;22(1):7-19. Epub 2017 Jul 5 doi: 10.1016/j.bjpt.2017.06.011. PMID: 28709588 Free PMC Article

Spinal cord injury without radiologic abnormality in children: a systematic review and meta-analysis.

Boese CK, Oppermann J, Siewe J, Eysel P, Scheyerer MJ, Lechler P
J Trauma Acute Care Surg 2015 Apr;78(4):874-82. doi: 10.1097/TA.0000000000000579. PMID: 25807412

See all (17)

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Central vertebral hypoplasia

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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