Marshall syndrome

R. F. Stratton, B. Lee, F. Ramirez

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

We report on a mother and daughter with Marshall syndrome, with the Robin sequence present in the daughter. Results of our efforts to link this syndrome to a defect in type II collagen are reported. We compare and contrast Marshall syndrome with the Stickler syndrome, and propose that enough phenotypic overlap exists to suggest that they are probably allelic expressions of the same locus.

Original languageEnglish
Pages (from-to)35-38
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume41
Issue number1
DOIs
StatePublished - 1991
Externally publishedYes

Keywords

  • COL2A1
  • Marshall syndrome
  • Robin sequence
  • Stickler syndrome
  • collagen
  • sensory neural deafness
  • type II
  • vitreoretinal degeneration

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