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Abnormal foramen magnum morphology

MedGen UID:
871208
Concept ID:
C4025687
Anatomical Abnormality
Synonym: Abnormality of the foramen magnum
 
HPO: HP:0002699

Definition

Any abnormality of the foramen magnum. [from HPO]

Term Hierarchy

Conditions with this feature

Syringomyelia, isolated
MedGen UID:
1622554
Concept ID:
C4538540
Disease or Syndrome
Syringomyelia (Greek: 'syrinx,' pipe, and 'myelos,' marrow) is a tubular cavity in the spinal cord. It can occur sporadically in association with spinal cord tumors, inflammatory arachnoiditis, or posttraumatically. It is rarely idiopathic (less than 1% of cases). The vast majority of cases of syringomyelia are cervical, noncommunicating, and associated with an abnormality at the foramen magnum, particularly the Chiari malformation type I (CM1; 118420), as well as basilar impression (109500) and Dandy-Walker malformation (220200) (Speer et al., 2003; Levine, 2004); these cases have shown familial segregation. The form of syringomyelia discussed here is 'noncommunicating' with the fourth ventricle, but may communicate with the subarachnoid space. In contrast, 'communicating' syringomyelia, or 'hydromelia,' opens rostrally into the fourth ventricle and almost always occurs in children with hydrocephalus, Chiari malformation type II (CM2; 207950), and spina bifida (see 182940) (Levine, 2004).

Professional guidelines

PubMed

Shapiro M, Nossek E, Sharashidze V, Tanaka M, Rutledge C, Chung C, Khawaja A, Riina H, Nelson PK, Raz E
J Neurointerv Surg 2024 May 21;16(6):615-623. doi: 10.1136/jnis-2022-019950. PMID: 37673678
Rosenblum JS, Pomeraniec IJ, Heiss JD
Neurol Clin 2022 May;40(2):297-307. Epub 2022 Mar 31 doi: 10.1016/j.ncl.2021.11.007. PMID: 35465876Free PMC Article
Strahle J, Muraszko KM, Kapurch J, Bapuraj JR, Garton HJ, Maher CO
J Neurosurg Pediatr 2011 Aug;8(2):214-21. doi: 10.3171/2011.5.PEDS1122. PMID: 21806365

Recent clinical studies

Etiology

Skadorwa T, Wierzbieniec O
Childs Nerv Syst 2022 Nov;38(11):2163-2170. Epub 2022 Aug 5 doi: 10.1007/s00381-022-05624-2. PMID: 35931858Free PMC Article
Jian Q, Zhang B, Jian F, Bo X, Chen Z
World Neurosurg 2022 Aug;164:e629-e635. Epub 2022 May 14 doi: 10.1016/j.wneu.2022.05.027. PMID: 35577208
Holmes LB, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):128-133. doi: 10.1002/bdr2.1082. PMID: 29377645
Alabaster K, Fred Bugg M, Splavski B, Boop FA, Arnautovic KI
J Neurosurg 2018 Jan;128(1):165-173. Epub 2017 Apr 14 doi: 10.3171/2016.10.JNS162161. PMID: 28409726
Proctor MR, Scott RM
Clin Sports Med 2012 Jul;31(3):521-33. Epub 2012 Apr 5 doi: 10.1016/j.csm.2012.03.008. PMID: 22658000

Diagnosis

Rosenblum JS, Pomeraniec IJ, Heiss JD
Neurol Clin 2022 May;40(2):297-307. Epub 2022 Mar 31 doi: 10.1016/j.ncl.2021.11.007. PMID: 35465876Free PMC Article
Olszewski AM, Proctor MR
Curr Opin Pediatr 2018 Dec;30(6):786-790. doi: 10.1097/MOP.0000000000000679. PMID: 30407974
Leibovitz Z, Lerman-Sagie T
Eur J Paediatr Neurol 2018 Nov;22(6):935-943. Epub 2018 Jun 30 doi: 10.1016/j.ejpn.2018.06.002. PMID: 29970280
Chiapparini L, Saletti V, Solero CL, Bruzzone MG, Valentini LG
Neurol Sci 2011 Dec;32 Suppl 3:S283-6. doi: 10.1007/s10072-011-0695-0. PMID: 21800079
Vannemreddy P, Nourbakhsh A, Willis B, Guthikonda B
Neurol India 2010 Jan-Feb;58(1):6-14. doi: 10.4103/0028-3886.60387. PMID: 20228456

Therapy

Yotsumoto T, Morozumi N, Furuya M, Fujii T, Hirota K, Ueda Y, Nakao K, Yamanaka S, Yoshikiyo K, Yoshida S, Nishimura T, Abe Y, Jindo T, Ogasawara H, Yasoda A
PLoS One 2019;14(5):e0216340. Epub 2019 May 23 doi: 10.1371/journal.pone.0216340. PMID: 31120905Free PMC Article
deSouza RM, Zador Z, Frim DM
Neurol Res 2011 Apr;33(3):278-84. doi: 10.1179/016164111X12962202723922. PMID: 21513648
Menezes AH
Childs Nerv Syst 2008 Oct;24(10):1203-7. Epub 2008 Mar 26 doi: 10.1007/s00381-008-0597-5. PMID: 18365213
Keskil S, Gözil R, Calgüner E
Surg Neurol 2003 Mar;59(3):228-31; discussion 231. doi: 10.1016/s0090-3019(02)01038-8. PMID: 12681561
Furuya K, Sano K, Segawa H, Ide K, Yoneyama H
J Neurol Neurosurg Psychiatry 1998 Feb;64(2):221-6. doi: 10.1136/jnnp.64.2.221. PMID: 9489535Free PMC Article

Prognosis

Venkatakrishna SSB, McClure ME, Andronikou S
J Comput Assist Tomogr 2023 Mar-Apr 01;47(2):301-306. Epub 2022 Dec 13 doi: 10.1097/RCT.0000000000001404. PMID: 36728736
Leibovitz Z, Lerman-Sagie T
Eur J Paediatr Neurol 2018 Nov;22(6):935-943. Epub 2018 Jun 30 doi: 10.1016/j.ejpn.2018.06.002. PMID: 29970280
McVige JW, Leonardo J
Curr Pain Headache Rep 2015 Jun;19(6):18. doi: 10.1007/s11916-015-0491-2. PMID: 26017710
Ferré Masó A, Poca MA, de la Calzada MD, Solana E, Romero Tomás O, Sahuquillo J
Neurologia 2014 Jun;29(5):294-304. Epub 2011 Mar 21 doi: 10.1016/j.nrl.2011.01.008. PMID: 21420201
Williams B
Adv Tech Stand Neurosurg 1993;20:107-64. doi: 10.1007/978-3-7091-6912-4_4. PMID: 8397533

Clinical prediction guides

Venkatakrishna SSB, McClure ME, Andronikou S
J Comput Assist Tomogr 2023 Mar-Apr 01;47(2):301-306. Epub 2022 Dec 13 doi: 10.1097/RCT.0000000000001404. PMID: 36728736
Layton RG, Pontier JF, Bins GP, Sucher BJ, Runyan CM
Cleft Palate Craniofac J 2023 May;60(5):591-600. Epub 2022 Jan 19 doi: 10.1177/10556656211072762. PMID: 35044263
Skadorwa T, Wierzbieniec O
Childs Nerv Syst 2022 Nov;38(11):2163-2170. Epub 2022 Aug 5 doi: 10.1007/s00381-022-05624-2. PMID: 35931858Free PMC Article
Leibovitz Z, Lerman-Sagie T
Eur J Paediatr Neurol 2018 Nov;22(6):935-943. Epub 2018 Jun 30 doi: 10.1016/j.ejpn.2018.06.002. PMID: 29970280
Assadsangabi R, Hajmomenian M, Bilaniuk LT, Vossough A
Childs Nerv Syst 2015 May;31(5):735-41. Epub 2015 Feb 17 doi: 10.1007/s00381-015-2639-0. PMID: 25686894

Recent systematic reviews

Botelho RV, Heringer LC, Botelho PB, Lopes RA, Waisberg J
World Neurosurg 2020 Jun;138:521-529.e2. Epub 2020 Mar 7 doi: 10.1016/j.wneu.2020.02.182. PMID: 32156591

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