| Identifier |
20110208_nanos_posters_111 |
| Title |
Congenital Ocular Motor Apraxia without Joubert's Syndrome: Overlooking the "Mini-Molar-Tooth" Sign and Subtle Hypoplasia of Inferior Vermis |
| Creator |
Elena A. Sokolova; William A. Fletcher; Fiona Costello |
| Affiliation |
University of Calgary, Calgary, Alberta, Canada |
| Subject |
COMA; Molar Tooth Sign; Cerebellar Vermus; Joubert's Syndrome; MRI Brain |
| Description |
Joubert's syndrome and related disorders (JSRD) include several autosomal recessive 'ciliopathies', which are defined on axial MRI by the presence of the molar tooth sign (MTS), often with hypoplasia of cerebellar vermis. Clinically, JSRD are differentiated from isolated congenital ocular motor apraxia (COMA) by the presence of intellectual disability and hypotonia or respiratory abnormalities during infancy. |
| Date |
2011-02-08 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2011 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2011: Poster Presentations |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 2011. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6ps12d7 |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
181649 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6ps12d7 |
