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 Citations (Scopus)

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
StatePublished - May 2 1997

Fingerprint

Eye Abnormalities
Ectodermal Dysplasia
Sensorineural Hearing Loss
Marshall syndrome
carbosulfan
Hyaloideoretinal degeneration of Wagner

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

The marshall syndrome : Report of a new family and review of the literature. / Shanske, Alan L.; Bogdanow, Anna; Shprintzen, Robert J.; Marion, Robert W.

In: American Journal of Medical Genetics, Vol. 70, No. 1, 02.05.1997, p. 52-57.

Research output: Contribution to journalArticle

Shanske, Alan L. ; Bogdanow, Anna ; Shprintzen, Robert J. ; Marion, Robert W. / The marshall syndrome : Report of a new family and review of the literature. In: American Journal of Medical Genetics. 1997 ; Vol. 70, No. 1. pp. 52-57.
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