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Abnormal odontoid process morphology

MedGen UID:
351218
Concept ID:
C1864794
Anatomical Abnormality; Finding
Synonyms: Abnormal odontoid peg; Abnormal odontoid process
 
HPO: HP:0003310

Definition

Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis. [from HPO]

Conditions with this feature

Spondylocostal dysostosis
MedGen UID:
82707
Concept ID:
C0265343
Disease or Syndrome
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.
Short stature and Facioauriculothoracic malformations
MedGen UID:
351216
Concept ID:
C1864791
Disease or Syndrome
Spondylocostal dysostosis 4, autosomal recessive
MedGen UID:
462292
Concept ID:
C3150942
Disease or Syndrome
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.

Professional guidelines

PubMed

Klimo P Jr, Kan P, Rao G, Apfelbaum R, Brockmeyer D
J Neurosurg Spine 2008 Oct;9(4):332-42. doi: 10.3171/SPI.2008.9.10.332. PMID: 18939918
Riew KD, Hilibrand AS, Palumbo MA, Sethi N, Bohlman HH
J Bone Joint Surg Am 2001 Feb;83(2):194-200. doi: 10.2106/00004623-200102000-00006. PMID: 11216680

Recent clinical studies

Etiology

Nascimento JJC, Silva LM, Ribeiro ECO, Neto EJS, Holanda MMA, Mello-Junior CF, Araújo-Neto SA, Diniz PRB
World Neurosurg 2022 Aug;164:e1262-e1268. Epub 2022 Jun 7 doi: 10.1016/j.wneu.2022.06.007. PMID: 35688370
Huang PJ, Lin JH, Chiang YH
World Neurosurg 2020 Jun;138:e634-e641. Epub 2020 Mar 13 doi: 10.1016/j.wneu.2020.03.023. PMID: 32173550
Botelho RV, Ferreira JA, Zandonadi Ferreira ED
World Neurosurg 2018 Sep;117:e180-e186. Epub 2018 Jun 7 doi: 10.1016/j.wneu.2018.05.233. PMID: 29886302
Shen W, Cui J, Chen J, Ji Y, Zou J, Chen H, Xiongzheng M
J Craniofac Surg 2013 May;24(3):934-6. doi: 10.1097/SCS.0b013e31828606a1. PMID: 23714914
Ahmed R, Traynelis VC, Menezes AH
Childs Nerv Syst 2008 Oct;24(10):1209-24. Epub 2008 Apr 4 doi: 10.1007/s00381-008-0607-7. PMID: 18389260

Diagnosis

Nascimento JJC, Silva LM, Ribeiro ECO, Neto EJS, Holanda MMA, Mello-Junior CF, Araújo-Neto SA, Diniz PRB
World Neurosurg 2022 Aug;164:e1262-e1268. Epub 2022 Jun 7 doi: 10.1016/j.wneu.2022.06.007. PMID: 35688370
Prasad A, Shah A, Sasane S, Goel A
World Neurosurg 2020 Sep;141:215-218. Epub 2020 Jun 18 doi: 10.1016/j.wneu.2020.06.102. PMID: 32565378
Öğüt E, Şekerci R, Şen H, Çakın H, Gediz T, Keles-Celik N
Surg Radiol Anat 2020 Jun;42(6):701-710. Epub 2020 Jan 27 doi: 10.1007/s00276-020-02421-x. PMID: 31989216
Wu X, Ling M, Chang Y, Sun Z
Eur Spine J 2017 May;26(Suppl 1):85-89. Epub 2016 Sep 21 doi: 10.1007/s00586-016-4783-y. PMID: 27652680
Shen W, Cui J, Chen J, Ji Y, Zou J, Chen H, Xiongzheng M
J Craniofac Surg 2013 May;24(3):934-6. doi: 10.1097/SCS.0b013e31828606a1. PMID: 23714914

Therapy

Yang H, Zhong S, Hu Y, Bao Z
Br J Neurosurg 2023 Aug;37(4):650-652. Epub 2019 Jan 17 doi: 10.1080/02688697.2018.1540763. PMID: 30652932
Wang W, Wang X, Ren X, Li Z, Su B, Xu Y, Xu X, Lv D, Liu W, Zhang S, Chen L, Li X
Folia Morphol (Warsz) 2020;79(4):845-850. Epub 2019 Dec 5 doi: 10.5603/FM.a2019.0130. PMID: 31802474
Kelly MP, Oshima Y, Yeom JS, Agarwal R, Bajwa NS, Riew KD
Spine (Phila Pa 1976) 2014 Oct 1;39(21):E1243-7. doi: 10.1097/BRS.0000000000000516. PMID: 25029221Free PMC Article
Heuer GG, Hardesty DA, Bhowmick DA, Bailey R, Magge SN, Storm PB
Eur Spine J 2009 Jun;18(6):884-92. Epub 2009 Apr 9 doi: 10.1007/s00586-009-0969-x. PMID: 19357876Free PMC Article
Ahmed R, Traynelis VC, Menezes AH
Childs Nerv Syst 2008 Oct;24(10):1209-24. Epub 2008 Apr 4 doi: 10.1007/s00381-008-0607-7. PMID: 18389260

Prognosis

Huang PJ, Lin JH, Chiang YH
World Neurosurg 2020 Jun;138:e634-e641. Epub 2020 Mar 13 doi: 10.1016/j.wneu.2020.03.023. PMID: 32173550
Öğüt E, Şekerci R, Şen H, Çakın H, Gediz T, Keles-Celik N
Surg Radiol Anat 2020 Jun;42(6):701-710. Epub 2020 Jan 27 doi: 10.1007/s00276-020-02421-x. PMID: 31989216
Shen W, Cui J, Chen J, Ji Y, Zou J, Chen H, Xiongzheng M
J Craniofac Surg 2013 May;24(3):934-6. doi: 10.1097/SCS.0b013e31828606a1. PMID: 23714914
Takatori R, Tokunaga D, Hase H, Mikami Y, Ikeda T, Harada T, Imai K, Ito H, Nishimura T, An HS, Inoue N, Kubo T
Spine (Phila Pa 1976) 2010 Nov 1;35(23):E1278-84. doi: 10.1097/BRS.0b013e3181e6d578. PMID: 20736886
Di Silvestre M, Guizzardi S, Gargiulo G, Savini R
Chir Organi Mov 1991 Apr-Jun;76(2):179-91. PMID: 1756679

Clinical prediction guides

Song YS, Lee IS, Nam KH, Kim DH, Han IH, Lee H, Jeong YJ, Yeom JA
Medicina (Kaunas) 2022 Sep 19;58(9) doi: 10.3390/medicina58091307. PMID: 36143984Free PMC Article
Tirado-Caballero J, Moreno-Madueño G, Rivero-Garvia M, Mayorga-Buiza MJ, Valencia-Anguita J, Márquez-Rivas J
World Neurosurg 2021 Feb;146:e1021-e1030. Epub 2020 Nov 20 doi: 10.1016/j.wneu.2020.11.079. PMID: 33227530
Wang W, Wang X, Ren X, Li Z, Su B, Xu Y, Xu X, Lv D, Liu W, Zhang S, Chen L, Li X
Folia Morphol (Warsz) 2020;79(4):845-850. Epub 2019 Dec 5 doi: 10.5603/FM.a2019.0130. PMID: 31802474
Park JH, Hong JT, Lee JB, Kim IS
World Neurosurg 2019 Nov;131:e108-e115. Epub 2019 Jul 16 doi: 10.1016/j.wneu.2019.07.080. PMID: 31323410
Menezes AH
J Neurosurg Pediatr 2012 Jun;9(6):573-85. doi: 10.3171/2012.2.PEDS11371. PMID: 22656246

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