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Abnormal form of the vertebral bodies

MedGen UID:
374194
Concept ID:
C1839326
Finding
Synonym: Abnormally-shaped vertebrae
 
HPO: HP:0003312

Definition

Abnormal morphology of vertebral body. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal form of the vertebral bodies

Conditions with this feature

SCARF syndrome
MedGen UID:
326461
Concept ID:
C1839321
Disease or Syndrome
Syndrome with the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.
4p partial monosomy syndrome
MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).

Professional guidelines

PubMed

England RJ, Eradi B, Murthi GV, Sutcliffe J
Pediatr Surg Int 2017 Jul;33(7):747-754. Epub 2017 May 17 doi: 10.1007/s00383-017-4094-3. PMID: 28516189
Chopra P, Tinkle B, Hamonet C, Brock I, Gompel A, Bulbena A, Francomano C
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):212-219. Epub 2017 Feb 10 doi: 10.1002/ajmg.c.31554. PMID: 28186390
Ameli FM, Hoy F
J Cardiovasc Surg (Torino) 1983 Nov-Dec;24(6):654-7. PMID: 6654979

Recent clinical studies

Etiology

Budjan C, Liu S, Ranga A, Gayen S, Pourquié O, Hormoz S
Elife 2022 Jan 28;11 doi: 10.7554/eLife.68925. PMID: 35088712Free PMC Article
England RJ, Eradi B, Murthi GV, Sutcliffe J
Pediatr Surg Int 2017 Jul;33(7):747-754. Epub 2017 May 17 doi: 10.1007/s00383-017-4094-3. PMID: 28516189
Hussein MA, Yun IS, Park H, Kim YO
J Craniofac Surg 2017 Jan;28(1):46-50. doi: 10.1097/SCS.0000000000003182. PMID: 27922967
Jenkins TJ, Mai HT, Burgmeier RJ, Savage JW, Patel AA, Hsu WK
Spine (Phila Pa 1976) 2016 Mar;41(5):E242-7. doi: 10.1097/BRS.0000000000001227. PMID: 26555825
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

Diagnosis

Yi M, Shen P, Zhang H
BMC Med Genomics 2024 Jun 3;17(1):151. doi: 10.1186/s12920-024-01910-x. PMID: 38831290Free PMC Article
Jaczyńska R, Bekiesinska-Figatowska M, Sobieraj P, Issat T, Gos M, Obersztyn E
Fetal Diagn Ther 2023;50(4):269-275. Epub 2023 Jun 30 doi: 10.1159/000531677. PMID: 37393895
England RJ, Eradi B, Murthi GV, Sutcliffe J
Pediatr Surg Int 2017 Jul;33(7):747-754. Epub 2017 May 17 doi: 10.1007/s00383-017-4094-3. PMID: 28516189
Hussein MA, Yun IS, Park H, Kim YO
J Craniofac Surg 2017 Jan;28(1):46-50. doi: 10.1097/SCS.0000000000003182. PMID: 27922967
Sonigo-Cohen P, Schmit P, Zerah M, Chat L, Simon I, Aubry MC, Gonzales M, Pierre-Kahn A, Brunelle F
Childs Nerv Syst 2003 Aug;19(7-8):555-60. Epub 2003 Jul 4 doi: 10.1007/s00381-003-0771-8. PMID: 12845458

Therapy

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
Zong Z, Tees S, Miyanji F, Fauth C, Reilly C, Lopez E, Tredwell S, Paul Goldberg Y, Delaney A, Eydoux P, Van Allen M, Lehman A
J Hum Genet 2015 Dec;60(12):743-7. Epub 2015 Oct 15 doi: 10.1038/jhg.2015.116. PMID: 26467725
Cameriere R, Giuliodori A, Zampi M, Galić I, Cingolani M, Pagliara F, Ferrante L
Int J Legal Med 2015 Mar;129(2):347-55. Epub 2014 Nov 11 doi: 10.1007/s00414-014-1112-z. PMID: 25384987
Braga M, Pederzoli M, Beretta S, Ferrarini M, Canovaro P, Arpaia G, Crespi V
Spine (Phila Pa 1976) 2009 Sep 15;34(20):E740-2. doi: 10.1097/BRS.0b013e3181b41181. PMID: 19752694
Hentschel SJ, Rhines LD, Wong FC, Gokaslan ZL, McCutcheon IE
J Neurosurg 2004 Apr;100(4 Suppl Spine):332-6. doi: 10.3171/spi.2004.100.4.0332. PMID: 15070140

Prognosis

Courvoisier A
Orthop Traumatol Surg Res 2023 Feb;109(1S):103459. Epub 2022 Oct 24 doi: 10.1016/j.otsr.2022.103459. PMID: 36302448
Knudsen TB, Pierro JD, Baker NC
Reprod Toxicol 2021 Jan;99:109-130. Epub 2020 Nov 14 doi: 10.1016/j.reprotox.2020.10.014. PMID: 33202217
Shah S, George KJ
Br J Neurosurg 2019 Dec;33(6):620-623. Epub 2019 Oct 4 doi: 10.1080/02688697.2019.1673313. PMID: 31583907
Hussein MA, Yun IS, Park H, Kim YO
J Craniofac Surg 2017 Jan;28(1):46-50. doi: 10.1097/SCS.0000000000003182. PMID: 27922967
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

Clinical prediction guides

Budjan C, Liu S, Ranga A, Gayen S, Pourquié O, Hormoz S
Elife 2022 Jan 28;11 doi: 10.7554/eLife.68925. PMID: 35088712Free PMC Article
Knudsen TB, Pierro JD, Baker NC
Reprod Toxicol 2021 Jan;99:109-130. Epub 2020 Nov 14 doi: 10.1016/j.reprotox.2020.10.014. PMID: 33202217
Ferreira CR, Regier DS, Yoon R, Pan KS, Johnston JM, Yang S, Spranger JW, Tifft CJ
Bone 2020 Feb;131:115142. Epub 2019 Nov 6 doi: 10.1016/j.bone.2019.115142. PMID: 31704340Free PMC Article
Barbe MF, Adiga R, Gordiienko O, Pleshko N, Selzer ME, Krynska B
Birth Defects Res A Clin Mol Teratol 2014 Jun;100(6):453-62. doi: 10.1002/bdra.23254. PMID: 24954432
Mortier GR, Lachman RS, Bocian M, Rimoin DL
Am J Med Genet 1996 Feb 2;61(4):310-9. doi: 10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y. PMID: 8834041

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