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Occipital horn

MedGen UID:
1842007
Concept ID:
C5782305
Anatomical Abnormality
HPO: HP:0034975

Definition

Downward pointing exostoses of the occipital bone situated in the tendinous insertions of the sternocleidomastoid and trapezius muscles. [from HPO]

Conditions with this feature

X-linked calvarial hyperostosis
MedGen UID:
1674665
Concept ID:
C5190611
Disease or Syndrome
Calvarial hyperostosis is a benign X-linked disorder that affects only the skull. Symptoms are prominent frontoparietal bones, flat nasal root, short upturned nose, high forehead with ridging of the metopic and sagittal sutures, and lateral frontal prominences. Radiographs of the skull show increased bone thickness at the sagittal suture line and prominent lateral frontal horns. Increased intracranial pressure and cranial nerve entrapment do not occur (summary by Borra et al., 2014).

Professional guidelines

PubMed

Czyzycki M, Glen A, Slowik A, Chrzan R, Dziedzic T
J Neural Transm (Vienna) 2021 Feb;128(2):207-213. Epub 2021 Jan 8 doi: 10.1007/s00702-020-02294-9. PMID: 33417010
Kodama H, Fujisawa C, Bhadhprasit W
Curr Drug Metab 2012 Mar;13(3):237-50. doi: 10.2174/138920012799320455. PMID: 21838703Free PMC Article
Kodama H, Murata Y, Kobayashi M
Pediatr Int 1999 Aug;41(4):423-9. doi: 10.1046/j.1442-200x.1999.01095.x. PMID: 10453199

Recent clinical studies

Etiology

De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Lai GY, Aouad P, DeRegnier RO, Dizon MLV, Palasis S, Lam SK
Pediatr Res 2022 Dec;92(6):1621-1629. Epub 2022 Feb 19 doi: 10.1038/s41390-022-01993-1. PMID: 35184137
Czyzycki M, Glen A, Slowik A, Chrzan R, Dziedzic T
J Neural Transm (Vienna) 2021 Feb;128(2):207-213. Epub 2021 Jan 8 doi: 10.1007/s00702-020-02294-9. PMID: 33417010
Cizmeci MN, Groenendaal F, Liem KD, van Haastert IC, Benavente-Fernández I, van Straaten HLM, Steggerda S, Smit BJ, Whitelaw A, Woerdeman P, Heep A, de Vries LS; ELVIS study group
J Pediatr 2020 Nov;226:28-35.e3. Epub 2020 Aug 12 doi: 10.1016/j.jpeds.2020.08.014. PMID: 32800815
Kodama H, Fujisawa C, Bhadhprasit W
Curr Drug Metab 2012 Mar;13(3):237-50. doi: 10.2174/138920012799320455. PMID: 21838703Free PMC Article

Diagnosis

De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Cizmeci MN, Groenendaal F, Liem KD, van Haastert IC, Benavente-Fernández I, van Straaten HLM, Steggerda S, Smit BJ, Whitelaw A, Woerdeman P, Heep A, de Vries LS; ELVIS study group
J Pediatr 2020 Nov;226:28-35.e3. Epub 2020 Aug 12 doi: 10.1016/j.jpeds.2020.08.014. PMID: 32800815
Lorincz MT
Handb Clin Neurol 2018;147:279-292. doi: 10.1016/B978-0-444-63233-3.00018-X. PMID: 29325617
Lüdemann W, Banan R, Samii A, Koutzoglou M, Di Rocco C
Childs Nerv Syst 2015 Apr;31(4):529-32. Epub 2015 Feb 17 doi: 10.1007/s00381-015-2629-2. PMID: 25686890
Woimant F, Trocello JM
Handb Clin Neurol 2014;120:851-64. doi: 10.1016/B978-0-7020-4087-0.00057-7. PMID: 24365357

Therapy

Cizmeci MN, Groenendaal F, Liem KD, van Haastert IC, Benavente-Fernández I, van Straaten HLM, Steggerda S, Smit BJ, Whitelaw A, Woerdeman P, Heep A, de Vries LS; ELVIS study group
J Pediatr 2020 Nov;226:28-35.e3. Epub 2020 Aug 12 doi: 10.1016/j.jpeds.2020.08.014. PMID: 32800815
Lorincz MT
Handb Clin Neurol 2018;147:279-292. doi: 10.1016/B978-0-444-63233-3.00018-X. PMID: 29325617
Lüdemann W, Banan R, Samii A, Koutzoglou M, Di Rocco C
Childs Nerv Syst 2015 Apr;31(4):529-32. Epub 2015 Feb 17 doi: 10.1007/s00381-015-2629-2. PMID: 25686890
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Kodama H, Murata Y, Kobayashi M
Pediatr Int 1999 Aug;41(4):423-9. doi: 10.1046/j.1442-200x.1999.01095.x. PMID: 10453199

Prognosis

De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Lai GY, Aouad P, DeRegnier RO, Dizon MLV, Palasis S, Lam SK
Pediatr Res 2022 Dec;92(6):1621-1629. Epub 2022 Feb 19 doi: 10.1038/s41390-022-01993-1. PMID: 35184137
Czyzycki M, Glen A, Slowik A, Chrzan R, Dziedzic T
J Neural Transm (Vienna) 2021 Feb;128(2):207-213. Epub 2021 Jan 8 doi: 10.1007/s00702-020-02294-9. PMID: 33417010
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Mercer JF
Am J Clin Nutr 1998 May;67(5 Suppl):1022S-1028S. doi: 10.1093/ajcn/67.5.1022S. PMID: 9587146

Clinical prediction guides

De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Stanishevsky AV, Aliev ZS, Gizatullin SK, Rafaelyan AA, Svistov DV, Gavrilov GV, Onnitsev IE
Zh Vopr Neirokhir Im N N Burdenko 2022;86(6):25-35. doi: 10.17116/neiro20228606125. PMID: 36534621
Cizmeci MN, Groenendaal F, Liem KD, van Haastert IC, Benavente-Fernández I, van Straaten HLM, Steggerda S, Smit BJ, Whitelaw A, Woerdeman P, Heep A, de Vries LS; ELVIS study group
J Pediatr 2020 Nov;226:28-35.e3. Epub 2020 Aug 12 doi: 10.1016/j.jpeds.2020.08.014. PMID: 32800815
Farooqui A, Ramzan MT, Pattinson J, Zaidi S
Acute Med 2019;18(4):259. PMID: 31912060
Sato M, Tanaka S, Kohama A, Fujii C
Acta Neurochir (Wien) 1987;88(3-4):95-103. doi: 10.1007/BF01404144. PMID: 3500570

Recent systematic reviews

De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Kunpalin Y, Richter J, Mufti N, Bosteels J, Ourselin S, De Coppi P, Thompson D, David AL, Deprest J
BJOG 2021 Jan;128(2):366-374. doi: 10.1111/1471-0528.16496. PMID: 32926566Free PMC Article
Nikas DC, Post AF, Choudhri AF, Mazzola CA, Mitchell L, Flannery AM; Pediatric Hydrocephalus Systematic Review and Evidence-Based Guidelines Task Force
J Neurosurg Pediatr 2014 Nov;14 Suppl 1:77-81. doi: 10.3171/2014.7.PEDS14330. PMID: 25988786

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