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Central vertebral hypoplasia

MedGen UID:
870234
•Concept ID:
C4024672
•
Anatomical Abnormality
HPO: HP:0008463

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

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
Ultrafast fetal MRI and prenatal diagnosis.
Hubbard AM
Semin Pediatr Surg 2003 Aug;12(3):143-53. doi: 10.1016/s1055-8586(03)00031-3. PMID: 12961108

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: 36883976Free PMC Article
The neurology of acutely failing respiratory mechanics.
Wijdicks EFM
Ann Neurol 2017 Apr;81(4):485-494. doi: 10.1002/ana.24908. PMID: 28253561
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
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

Diagnosis

Practice Bulletin No. 187: Neural Tube Defects.
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
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
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
Neuro-osteology.
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Therapy

Hidden blood loss and bleeding characteristics in children with congenital scoliosis undergoing spinal osteotomies.
Raitio A, Heiskanen S, Soini V, Helenius L, Syvänen J, Helenius I
Int Orthop 2024 Jun;48(6):1569-1577. Epub 2024 Jan 17 doi: 10.1007/s00264-024-06090-y. PMID: 38228759Free PMC Article
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: 36883976Free PMC Article
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: 20967471Free 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

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: 21050479Free 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

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.
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: 36883976Free PMC Article
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: 35954673Free 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: 17163996Free PMC Article
Spinal neurofibromatosis.
Leeds NE, Jacobson HG
AJR Am J Roentgenol 1976 Mar;126(3):617-23. doi: 10.2214/ajr.126.3.617. PMID: 178211

Recent systematic reviews

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: 36883976Free 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: 28709588Free PMC Article
Dural arteriovenous fistulas at the craniocervical junction: a systematic review.
Zhao J, Xu F, Ren J, Manjila S, Bambakidis NC
J Neurointerv Surg 2016 Jun;8(6):648-53. Epub 2015 Jun 3 doi: 10.1136/neurintsurg-2015-011775. PMID: 26041099
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

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