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Marshall syndrome.

R F Stratton1, B Lee, F Ramirez

  • 1Department of Pediatrics, Wilford Hall United States Air Force Medical Center, Lackland Air Force Base, Texas.

American Journal of Medical Genetics
|October 1, 1991
PubMed
Summary
This summary is machine-generated.

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Marshall syndrome and Stickler syndrome may be the same genetic condition. Research suggests a potential link between Marshall syndrome and type II collagen defects, indicating possible allelic expression.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Research

Background:

  • Marshall syndrome is a rare genetic disorder.
  • The Robin sequence is a congenital condition involving the jaw, tongue, and palate.
  • Type II collagen is crucial for connective tissues.

Observation:

  • A mother and daughter diagnosed with Marshall syndrome were studied.
  • The daughter presented with the Robin sequence.
  • Phenotypic similarities between Marshall and Stickler syndromes were noted.

Findings:

  • Efforts were made to associate Marshall syndrome with a defect in type II collagen.
  • Phenotypic overlap suggests Marshall and Stickler syndromes might be allelic expressions.
  • This implies they could arise from different mutations at the same gene locus.

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Implications:

  • Understanding the genetic basis of Marshall syndrome can inform diagnosis and treatment.
  • Further research may clarify the relationship between Marshall and Stickler syndromes.
  • This could lead to new insights into collagen-related connective tissue disorders.