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Cranial nerve and nuclear aplasia

MedGen UID:
833282
•Concept ID:
CN229273
•
Finding
Synonym: cranial nerve and nuclear aplasia
 
Monarch Initiative: MONDO:0020132
Orphanet: ORPHA98518

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCranial nerve and nuclear aplasia
Follow this link to review classifications for Cranial nerve and nuclear aplasia in Orphanet.

Recent clinical studies

Etiology

A review of neuroradiological abnormalities in patients with coronavirus disease 2019 (COVID-19).
Bahranifard B, Mehdizadeh S, Hamidi A, Khosravi A, Emami R, Mirzaei K, Nemati R, Nemati F, Assadi M, Gholamrezanezhad A
Neuroradiol J 2022 Feb;35(1):3-24. Epub 2021 Jul 5 doi: 10.1177/19714009211029177. PMID: 34224248Free PMC Article
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, Tongsima S, Sonsuwan N
Clin Otolaryngol 2020 Sep;45(5):695-702. Epub 2020 May 25 doi: 10.1111/coa.13560. PMID: 32351010
Peripapillary Sparing in Autosomal Recessive Bestrophinopathy.
Birtel J, Gliem M, Herrmann P, MacLaren RE, Bolz HJ, Charbel Issa P
Ophthalmol Retina 2020 May;4(5):523-529. Epub 2020 Mar 5 doi: 10.1016/j.oret.2019.12.008. PMID: 32147488
Myopia and associated pathological complications.
Saw SM, Gazzard G, Shih-Yen EC, Chua WH
Ophthalmic Physiol Opt 2005 Sep;25(5):381-91. doi: 10.1111/j.1475-1313.2005.00298.x. PMID: 16101943
Nuclear and infranuclear disorders.
Meienberg O, Müri R
Baillieres Clin Neurol 1992 Aug;1(2):417-34. PMID: 1344077

Diagnosis

A review of neuroradiological abnormalities in patients with coronavirus disease 2019 (COVID-19).
Bahranifard B, Mehdizadeh S, Hamidi A, Khosravi A, Emami R, Mirzaei K, Nemati R, Nemati F, Assadi M, Gholamrezanezhad A
Neuroradiol J 2022 Feb;35(1):3-24. Epub 2021 Jul 5 doi: 10.1177/19714009211029177. PMID: 34224248Free PMC Article
Peripapillary Sparing in Autosomal Recessive Bestrophinopathy.
Birtel J, Gliem M, Herrmann P, MacLaren RE, Bolz HJ, Charbel Issa P
Ophthalmol Retina 2020 May;4(5):523-529. Epub 2020 Mar 5 doi: 10.1016/j.oret.2019.12.008. PMID: 32147488
Inherited eye-related disorders due to mitochondrial dysfunction.
Yu-Wai-Man P, Newman NJ
Hum Mol Genet 2017 Aug 1;26(R1):R12-R20. doi: 10.1093/hmg/ddx182. PMID: 28481993Free PMC Article
Optical coherence tomography shows retinal abnormalities associated with optic nerve disease.
Tawse KL, Hedges TR 3rd, Gobuty M, Mendoza-Santiesteban C
Br J Ophthalmol 2014 Jul;98 Suppl 2(Suppl 2):ii30-3. Epub 2014 Mar 13 doi: 10.1136/bjophthalmol-2013-304301. PMID: 24627251Free PMC Article
Intracranial vascular abnormalities.
Biousse V, Newman NJ
Ophthalmol Clin North Am 2001 Mar;14(1):243-64. PMID: 11370570

Therapy

Diagnostic ability of confocal near-infrared reflectance fundus imaging to detect retrograde microcystic maculopathy from chiasm compression. A comparative study with OCT findings.
Monteiro MLR, Sousa RM, Araújo RB, Ferraz D, Sadiq MA, Zacharias LC, Preti RC, Cunha LP, Nguyen QD
PLoS One 2021;16(6):e0253323. Epub 2021 Jun 24 doi: 10.1371/journal.pone.0253323. PMID: 34166408Free PMC Article
Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients.
Orssaud C, Dufier J, Germain D
Ophthalmic Genet 2003 Sep;24(3):129-39. doi: 10.1076/opge.24.3.129.15609. PMID: 12868031
Electron microscopic observations of glossal circumvallate papillae in dysgeusic patients.
Yasuda M, Tomita H
Acta Otolaryngol Suppl 2002;(546):122-8. doi: 10.1080/00016480260046508. PMID: 12132609
Transient cranial neuropathy in prostatic cancer with bone metastases after rhenium-186-HEDP treatment.
de Klerk JM, Zonnenberg BA, Krouwer HG, Blijham GH, van Dijk A, van het Schip AD, van Die J, van Rijk PP
J Nucl Med 1996 Mar;37(3):465-7. PMID: 8772646
Optic nerve hypoplasia: comparative effects in children and rats exposed to alcohol during pregnancy.
Strömland K, Pinazo-Durán MD
Teratology 1994 Aug;50(2):100-11. doi: 10.1002/tera.1420500204. PMID: 7801297

Prognosis

Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, Tongsima S, Sonsuwan N
Clin Otolaryngol 2020 Sep;45(5):695-702. Epub 2020 May 25 doi: 10.1111/coa.13560. PMID: 32351010
Aberrant distribution of the trochlear nerve: A cadaveric study supported by immunohistochemistry.
Takezawa K, Townsend G, Manavis J, Ghabriel M
Ann Anat 2017 Sep;213:1-7. Epub 2017 May 23 doi: 10.1016/j.aanat.2017.04.001. PMID: 28549557
Size of the intracranial optic nerve and optic tract in neonates at term-equivalent age at magnetic resonance imaging.
Oyama J, Mori K, Imamura M, Mizushima Y, Tateishi U
Pediatr Radiol 2016 Apr;46(4):527-33. Epub 2015 Dec 8 doi: 10.1007/s00247-015-3495-5. PMID: 26646150
Blau syndrome-associated uveitis and the NOD2 gene.
Pillai P, Sobrin L
Semin Ophthalmol 2013 Sep-Nov;28(5-6):327-32. Epub 2013 Sep 6 doi: 10.3109/08820538.2013.825285. PMID: 24010719
Variants of Möbius' syndrome and central neurologic impairment. Lindeman procedure in children.
Cohen SR, Thompson JW
Ann Otol Rhinol Laryngol 1987 Jan-Feb;96(1 Pt 1):93-100. doi: 10.1177/000348948709600122. PMID: 3545021

Clinical prediction guides

A review of neuroradiological abnormalities in patients with coronavirus disease 2019 (COVID-19).
Bahranifard B, Mehdizadeh S, Hamidi A, Khosravi A, Emami R, Mirzaei K, Nemati R, Nemati F, Assadi M, Gholamrezanezhad A
Neuroradiol J 2022 Feb;35(1):3-24. Epub 2021 Jul 5 doi: 10.1177/19714009211029177. PMID: 34224248Free PMC Article
Nervous System Involvement in Coronavirus Disease 2019: Results from a Retrospective Consecutive Neuroimaging Cohort.
Klironomos S, Tzortzakakis A, Kits A, Öhberg C, Kollia E, Ahoromazdae A, Almqvist H, Aspelin Å, Martin H, Ouellette R, Al-Saadi J, Hasselberg M, Haghgou M, Pedersen M, Petersson S, Finnsson J, Lundberg J, Falk Delgado A, Granberg T
Radiology 2020 Dec;297(3):E324-E334. Epub 2020 Jul 30 doi: 10.1148/radiol.2020202791. PMID: 32729812Free PMC Article
Neural mechanisms of oculomotor abnormalities in the infantile strabismus syndrome.
Walton MMG, Pallus A, Fleuriet J, Mustari MJ, Tarczy-Hornoch K
J Neurophysiol 2017 Jul 1;118(1):280-299. Epub 2017 Apr 12 doi: 10.1152/jn.00934.2016. PMID: 28404829Free PMC Article
Size of the intracranial optic nerve and optic tract in neonates at term-equivalent age at magnetic resonance imaging.
Oyama J, Mori K, Imamura M, Mizushima Y, Tateishi U
Pediatr Radiol 2016 Apr;46(4):527-33. Epub 2015 Dec 8 doi: 10.1007/s00247-015-3495-5. PMID: 26646150
Nuclear and infranuclear disorders.
Meienberg O, Müri R
Baillieres Clin Neurol 1992 Aug;1(2):417-34. PMID: 1344077

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