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[Marshall syndrome--case report]

M Liska1, R Philips, M R Krawczyński

  • 1Kliniki Okulistycznej AM w Pozananiu.

Klinika Oczna
|January 1, 1995
PubMed
Summary
This summary is machine-generated.

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Marshall syndrome and Stickler syndrome share key features, suggesting a common genetic cause related to the COL2A1 gene. This finding supports the combined "Marshall-Stickler syndrome" designation.

Area of Science:

  • Ophthalmology
  • Genetics
  • Connective tissue disorders

Background:

  • Marshall syndrome is a rare genetic disorder.
  • Stickler syndrome is a connective tissue disorder affecting collagen.

Observation:

  • A 15-year-old female with Marshall syndrome presented with retinal tear and detachment.
  • Ophthalmological examination and surgical intervention details are presented.

Findings:

  • Significant phenotypical overlap between Marshall syndrome and Stickler syndrome was confirmed.
  • This overlap suggests a shared etiology, likely involving variable mutations in the type II procollagen gene (COL2A1).

Implications:

  • The findings support the classification of these conditions as potentially the same genetic disorder with variable expression.

Related Experiment Videos

  • This supports the use of the term "Marshall-Stickler syndrome" in scientific literature.