Congenital Cranial Dysinnervation Disorders
| Identifier | 20230316_nanos_pathway1_06 |
| Title | Congenital Cranial Dysinnervation Disorders |
| Creator | Mary C. Whitman, MD |
| Affiliation | Boston Children's Hospital;Harvard Medical School, Boston, MA |
| Subject | Congenital Fibrosis of the Extraocular Muscles; Duane Syndrome; Oculomotor Synkinesis; Axon Guidance; Microtubules |
| Description | The congenital cranial dysinnervation disorders (CCDDs) are a group of rare disorders in which patients cannot fully move their eyes and/or face, due to defects in innervation of the extraocular or facial muscles. |
| Date | 2023-03 |
| References | 1. Engle EC, The genetic basis of complex strabismus, Pediatr Res, 59, 343-348, 2006. 2. Whitman MC, Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders, Annu Rev Vis Sci, 7, 827-850, 2021. 3. Graeber CP, Hunter DG and Engle EC, The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease, Semin Ophthalmol, 28, 427-437, 2013. 4. Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD and Beggs AH, Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles, Ann Neurol, 41, 314-325, 1997. 5. Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkaemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL and Engle EC, Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1), Nat Genet, 35, 318-321, 2003. |
| Language | eng |
| Format | application/pdf |
| Format Creation | Microsoft PowerPoint |
| Type | Text |
| Source | 2023 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of | NANOS Annual Meeting 2023: Insight Into Neuroanatomy: Learning From Pediatric Neuro-Ophthalmic Disorders: https://novel.utah.edu/collection/NAM/toc/ |
| Collection | Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
| Publisher | North American Neuro-Ophthalmology Society |
| Holding Institution | Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management | Copyright 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK | ark:/87278/s64fh14w |
| Setname | ehsl_novel_nam |
| ID | 2386663 |
| Reference URL | https://collections.lib.utah.edu/ark:/87278/s64fh14w |