Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome
The association of DRS with RTS is rare with few prior reported cases. We present another case of DRS coupled with <i>EP300</i> variant Type II RTS, though this is the first with associated manifest strabismus and compensatory torticollis requiring strabismus surgery, contributing to the phenotypic variability seen in this condition.
Authors
- Linh H Tran
- Maanasa Indaram (ORCID: https://orcid.org/0000-0001-6228-3307)
- Julius T. Oatts
Institutions
- University of California, San Francisco (US)
- University of California, Berkeley (US)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2024-11-28
- DOI
- https://doi.org/10.1016/j.ajoc.2024.102226
- Primary Topic
- Congenital limb and hand anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Eye Institute