The marshall syndrome: Report of a new family and review of the literature

Alan L. Shanske, Anna Bogdanow, Robert J. Shprintzen, Robert W. Marion

Research output: Contribution to journalArticle

23 Scopus citations

Abstract

The Marshall syndrome is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. To our knowledge, only seven additional multi-generational families have been reported since the initial description of the disorder by Marshall in 1958. We present a family in which six members in four generations are affected with apparent Marshall syndrome. We also review and compare similar disorders, such as Stickler, Weissenbacher- Zweimuller, and Wagner syndromes, and conclude that Marshall syndrome is a distinct entity.

Original languageEnglish (US)
Pages (from-to)52-57
Number of pages6
JournalAmerican journal of medical genetics
Volume70
Issue number1
DOIs
Publication statusPublished - May 2 1997

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Keywords

  • Marshall syndrome
  • Stickler syndrome
  • Wagner syndrome
  • Weissenbacher-Zweymuller syndrome
  • ectodermal dysplasia
  • type II collagen

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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