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Related Experiment Videos

Paradoxical eyelid movement in trisomy 2p.

Tatsuya Ishikawa1, Kazuhisa Inukai, Manabu Kanayama

  • 1Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan.

Pediatric Neurology
|April 17, 2002
PubMed
Summary
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A rare case of paradoxical eyelid movement in a 12-year-old female with dup(2)(p25.3p22.2) was documented. This unique ocular finding persisted for 11 years, alongside severe developmental and physical anomalies.

Area of Science:

  • Genetics
  • Neurology
  • Ophthalmology

Background:

  • Presents a unique case of paradoxical eyelid movement in a pediatric patient.
  • Highlights the genetic anomaly dup(2)(p25.3p22.2) associated with complex clinical features.

Observation:

  • Describes persistent, alternating seesaw-like eyelid movements during lateral gaze observed from 5 months to 12 years of age.
  • Documents associated ophthalmologic abnormalities, severe psychomotor retardation, growth failure, epilepsy, and multiple congenital anomalies.

Findings:

  • Differentiates the patient's paradoxical eyelid movements from Duane syndrome.
  • Discusses potential pathogenetic mechanisms for the observed eyelid abnormalities and associated syndromic features.

Implications:

Related Experiment Videos

  • Suggests a potential link between dup(2)(p25.3p22.2) and complex neurological and ophthalmologic phenotypes.
  • Underscores the importance of comprehensive evaluation in pediatric patients with rare genetic and movement disorders.