Duane retraction syndrome associated with rubinstein-taybi syndrome

Oscar A. Cruz, Deborah M.L. Mason, Marthanda S. Eswara, Gregg T. Lueder

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

The authors present a case report of Duane retraction syndrome (DRS) associated with Rubinstein-Taybi syndrome (RTS). RTS is a multisystem condition characterized by psychomotor developmental delay, broad thumbs and great toes, short stature, and characteristic facies with a beaked 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 or downshoot of the affected eye on adduction. The case report described represents the first reported case of DRS associated with RTS, an association not previously recognized. This association raises the possibility that the abnormal CNS development in RTS may occasionally involve the ocular motor nerves.

Original languageEnglish
Pages (from-to)171-175
Number of pages5
JournalOphthalmic Genetics
Volume16
Issue number4
DOIs
StatePublished - 1995

Keywords

  • Broad thumbs
  • Duane retraction syndrome
  • Globe retraction
  • Rubinstein-Taybi syndrome

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