| Identifier |
20000327_nanos_posters_28 |
| Title |
Congenital Extraocular Muscle Fibrosis Type 1: MRI and Clinical Findings |
| Creator |
Thomas J. Carlow, MD; B. L. Hart, MD; E. C. Engle, MD |
| Affiliation |
Albuquerque, New Mexico |
| Subject |
Congenital Extraocular Muscle Fibrosis; Magnetic Resonance Imaging; Cerebellar Hypoplasia |
| Description |
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is characterized by bilateral ptosis, restrictive ophthalmoplegia with limited upgaze, persistent downgaze, and autosomal dominant transmission. The gene localizes to the chromosome 12 centromeric region. We examined four members of a family with CFEOM1 and present MRI and clinical findings, including the unexpected finding of cerebellar hypoplasia. |
| Date |
1999-03-15 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2000 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2000: Poster Presentations |
| 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 2000. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6dv4rh6 |
| Setname |
ehsl_novel_nam |
| ID |
182340 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6dv4rh6 |
