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[Marfan syndrome]

V Liska1

  • 1Ocní oddĕlení Nemocnice, Litomysl.

Ceska a Slovenska Oftalmologie : Casopis Ceske Oftalmologicke Spolecnosti a Slovenske Oftalmologicke Spolecnosti
|February 1, 1997
PubMed
Summary

This study identifies three Marfan syndrome variants sharing skeletal features and distinct ophthalmological symptoms. Familial occurrence was noted in one case, with two other variants presenting as milder Marfan syndrome forms.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Skeletal Dysplasias

Background:

  • Marfan syndrome is a genetic disorder affecting connective tissue.
  • It typically presents with a range of symptoms impacting multiple body systems.

Observation:

  • Three distinct clinical presentations of Marfan syndrome were identified.
  • All forms shared common skeletal manifestations.
  • Ophthalmological symptoms varied across the three presentations.

Findings:

  • A familial Marfan syndrome case was documented in one instance.
  • Two other variants represented milder, or 'frust', forms of the syndrome.
  • The study highlights phenotypic heterogeneity within Marfan syndrome.

Implications:

  • Understanding these Marfan syndrome variants aids in accurate diagnosis and management.
  • Recognizing milder forms is crucial for comprehensive patient care.
  • Further research into the genetic basis of these variants is warranted.