Duane syndrome associated with Rubinstein-Taybi syndrome type II

J AAPOS. 2024 Oct;28(5):103990. doi: 10.1016/j.jaapos.2024.103990. Epub 2024 Sep 4.

Abstract

We report the case of an 8-month-old infant born at 33 weeks' gestation referred to our institution for evaluation of left eye abduction deficit and microcephaly. Ophthalmic examination revealed a left eye abduction deficit with palpebral fissure narrowing on adduction along with palpebral fissure widening on abduction, consistent with Duane syndrome. Genetic testing revealed a pathogenic EP300 mutation confirming Rubinstein-Taybi syndrome type II. The cooccurrence of Duane syndrome and Rubinstein-Taybi syndrome is rare, with only 3 cases in the literature, 2 with genetic confirmation. Potential involvement of the cranial nerves in Rubinstein-Taybi syndrome may explain its cooccurrence with Duane syndrome, which is seemingly more common in EP300-mediated disease.

Publication types

  • Case Reports

MeSH terms

  • Duane Retraction Syndrome* / diagnosis
  • Duane Retraction Syndrome* / genetics
  • Duane Retraction Syndrome* / physiopathology
  • E1A-Associated p300 Protein* / genetics
  • Female
  • Humans
  • Infant
  • Male
  • Mutation
  • Rubinstein-Taybi Syndrome* / complications
  • Rubinstein-Taybi Syndrome* / diagnosis
  • Rubinstein-Taybi Syndrome* / genetics

Substances

  • E1A-Associated p300 Protein
  • EP300 protein, human