AI Article Synopsis

  • An 8-month-old infant with a history of being born prematurely was evaluated for issues related to eye movement and microcephaly.
  • The eye examination indicated a condition known as Duane syndrome, characterized by abnormal eye movements.
  • Genetic testing confirmed the presence of a mutation linked to Rubinstein-Taybi syndrome type II, which is unusual but can be associated with Duane syndrome due to potential cranial nerve involvement.

Article 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.

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Source
http://dx.doi.org/10.1016/j.jaapos.2024.103990DOI Listing

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