DUANE RETRACTION SYNDROME-ASSOCIATED WITH RUBINSTEIN-TAYBI SYNDROME

Citation
Oa. Cruz et al., DUANE RETRACTION SYNDROME-ASSOCIATED WITH RUBINSTEIN-TAYBI SYNDROME, Ophthalmic genetics, 16(4), 1995, pp. 171-175
Citations number
NO
Categorie Soggetti
Genetics & Heredity",Ophthalmology
Journal title
ISSN journal
13816810
Volume
16
Issue
4
Year of publication
1995
Pages
171 - 175
Database
ISI
SICI code
1381-6810(1995)16:4<171:DRSWRS>2.0.ZU;2-5
Abstract
The authors present a case report of Duane retraction syndrome (DRS) a ssociated with Rubinstein-Taybi syndrome (RTS). RTS is a multisystem c ondition characterized by psychomotor developmental delay, broad thumb s and great toes, short stature, and characteristic facies with a beak ed nose. DRS is an ocular disorder characterized by retraction of the globe with narrowing of the palpebral fissure in attempted adduction, with abduction and/or adduction deficiency, and, frequently, upshoot o r downshoot of the affected eye on adduction. The case report describe d represents the first reported case of Das associated with RTS, an as sociation not previously recognized. This association raises the possi bility that the abnormal CNS development in RTS may occasionally invol ve the ocular motor nerves.