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[Marfan's syndrome]

M A Toro Solá1

  • 1Departamento Pediatría, Hospital Municipal de San Juan, Centro Médico de Río Piedras, P.R.

Boletin De La Asociacion Medica De Puerto Rico
|July 1, 1996
PubMed
Summary
This summary is machine-generated.

Diagnosing Marfan Syndrome using new criteria in 35 individuals revealed affected systems align with existing literature. Early diagnosis and family history are crucial for presymptomatic treatment and genetic counseling.

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Area of Science:

  • Genetics
  • Clinical Medicine
  • Medical Diagnostics

Context:

  • Marfan Syndrome diagnosis and evaluation
  • Experience with 35 individuals across 23 families
  • Application of new clinical and diagnostic criteria

Purpose:

  • To report experience in diagnosing, evaluating, and counseling for Marfan Syndrome
  • To validate new diagnostic criteria against observed frequencies of affected systems
  • To emphasize the importance of family history in diagnosis and genetic counseling

Summary:

  • Utilized new clinical and diagnostic criteria for Marfan Syndrome in 35 individuals from 23 families.
  • Observed that the frequency of affected systems aligns with established literature.
  • Presymptomatic treatment is feasible, highlighting the need for family history in diagnosis for effective genetic counseling.

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Impact:

  • Facilitates earlier and more accurate diagnosis of Marfan Syndrome.
  • Supports the utility of updated diagnostic criteria in clinical practice.
  • Improves genetic counseling and patient well-being through informed diagnosis and family history consideration.