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Os odontoideum

MedGen UID:
488994
Concept ID:
C2919848
Disease or Syndrome
Synonym: Os Odontoideum
SNOMED CT: Os odontoideum (445242006)
 
HPO: HP:0005667

Definition

Separation of the odontoid process from the body of the axis. [from HPO]

Conditions with this feature

Spondyloepiphyseal dysplasia, Reardon type
MedGen UID:
322238
Concept ID:
C1833603
Disease or Syndrome
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.
Cutis laxa, autosomal dominant 3
MedGen UID:
899774
Concept ID:
C4225268
Disease or Syndrome
Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (123700).
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
MedGen UID:
1780157
Concept ID:
C5543257
Disease or Syndrome
SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020).

Professional guidelines

PubMed

Helenius IJ, Bauer JM, Verhofste B, Sponseller PD, Krengel WF, Hedequist D, Cahill PJ, Larson AN, Pahys JM, Anderson JT, Martus JE, Yaszay B, Phillips JH
J Bone Joint Surg Am 2019 Oct 2;101(19):1750-1760. doi: 10.2106/JBJS.19.00314. PMID: 31577680
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
Dai L, Yuan W, Ni B, Jia L
Surg Neurol 2000 Feb;53(2):106-8; discussion 108-9. doi: 10.1016/s0090-3019(99)00184-6. PMID: 10713186

Recent clinical studies

Etiology

Yang B, Lu T, He X, Li H
J Orthop Surg Res 2023 Jan 13;18(1):37. doi: 10.1186/s13018-023-03517-x. PMID: 36639761Free PMC Article
Montrisaet R, Petcharunpaisan S
Childs Nerv Syst 2020 Nov;36(11):2829-2834. Epub 2020 Apr 6 doi: 10.1007/s00381-020-04599-2. PMID: 32253491
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
Wang Q, Dong S, Wang F
Surg Radiol Anat 2020 Feb;42(2):155-160. Epub 2019 Oct 15 doi: 10.1007/s00276-019-02351-3. PMID: 31616983
Helenius IJ, Bauer JM, Verhofste B, Sponseller PD, Krengel WF, Hedequist D, Cahill PJ, Larson AN, Pahys JM, Anderson JT, Martus JE, Yaszay B, Phillips JH
J Bone Joint Surg Am 2019 Oct 2;101(19):1750-1760. doi: 10.2106/JBJS.19.00314. PMID: 31577680

Diagnosis

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
Hedequist DJ, Mo AZ
J Am Acad Orthop Surg 2020 Feb 1;28(3):e100-e107. doi: 10.5435/JAAOS-D-18-00637. PMID: 31977608Free PMC Article
Wang Q, Dong S, Wang F
Surg Radiol Anat 2020 Feb;42(2):155-160. Epub 2019 Oct 15 doi: 10.1007/s00276-019-02351-3. PMID: 31616983
Rozzelle CJ, Aarabi B, Dhall SS, Gelb DE, Hurlbert RJ, Ryken TC, Theodore N, Walters BC, Hadley MN
Neurosurgery 2013 Mar;72 Suppl 2:159-69. doi: 10.1227/NEU.0b013e318276ee69. PMID: 23417188
Hadley MN, Walters BC, Grabb PA, Oyesiku NM, Przybylski GJ, Resnick DK, Ryken TC
Neurosurgery 2002 Mar;50(3 Suppl):S148-55. doi: 10.1097/00006123-200203001-00023. PMID: 12431299

Therapy

Kameda-Smith M, Biswas A, D'Arco F, Thompson D
Eur Spine J 2024 Mar;33(3):1164-1170. Epub 2023 Nov 23 doi: 10.1007/s00586-023-08044-1. PMID: 37994987
Neeraja K, Prasad S, Surisetti BK, Holla VV, Sharma D, Kamble N, Kulanthaivelu K, Dwarakanth S, Pruthi N, Pal PK, Yadav R
World Neurosurg 2021 Feb;146:e1287-e1292. Epub 2020 Dec 4 doi: 10.1016/j.wneu.2020.11.153. PMID: 33285336
Cohen LL, Yang BW, Glotzbecker MP, Emans JB, Karlin LI, Snyder BD, Hresko MT, Hedequist DJ
J Pediatr Orthop 2020 Oct;40(9):462-467. doi: 10.1097/BPO.0000000000001564. PMID: 32301850
Tang X, Tan M, Yi P, Yang F, Hao Q
Eur Spine J 2018 Jul;27(Suppl 3):259-263. Epub 2017 May 15 doi: 10.1007/s00586-017-5116-5. PMID: 28508240
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

Wilson S, Menezes AH
Childs Nerv Syst 2023 Apr;39(4):869-875. Epub 2023 Feb 25 doi: 10.1007/s00381-023-05892-6. PMID: 36828956
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
Wu X, Wood KB, Gao Y, Li S, Wang J, Ge T, Zhao B, Shao Z, Yang S, Yang C
J Neurosurg Spine 2018 Feb;28(2):131-139. Epub 2017 Nov 17 doi: 10.3171/2017.5.SPINE161211. PMID: 29148933
Ni B, Zhou F, Xie N, Guo X, Yang L, Guo Q, Yang J, Li S, Zhang F, Zhu Z, Chen J
World Neurosurg 2011 Mar-Apr;75(3-4):540-6. doi: 10.1016/j.wneu.2010.07.021. PMID: 21600509

Clinical prediction guides

Kameda-Smith M, Biswas A, D'Arco F, Thompson D
Eur Spine J 2024 Mar;33(3):1164-1170. Epub 2023 Nov 23 doi: 10.1007/s00586-023-08044-1. PMID: 37994987
Wang Y, Song C, Ji Y, Xia J, Chen C, Haque M, Zhuang J, Zhou C, Zu J, Li X, Yan J
World Neurosurg 2023 Mar;171:e1-e7. Epub 2022 Aug 29 doi: 10.1016/j.wneu.2022.08.108. PMID: 36049725
Hedequist DJ, Mo AZ
J Am Acad Orthop Surg 2020 Feb 1;28(3):e100-e107. doi: 10.5435/JAAOS-D-18-00637. PMID: 31977608Free PMC Article
Wang Q, Dong S, Wang F
Surg Radiol Anat 2020 Feb;42(2):155-160. Epub 2019 Oct 15 doi: 10.1007/s00276-019-02351-3. PMID: 31616983
Helenius IJ, Bauer JM, Verhofste B, Sponseller PD, Krengel WF, Hedequist D, Cahill PJ, Larson AN, Pahys JM, Anderson JT, Martus JE, Yaszay B, Phillips JH
J Bone Joint Surg Am 2019 Oct 2;101(19):1750-1760. doi: 10.2106/JBJS.19.00314. PMID: 31577680

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