The Marshall syndrome: report of a new family and review of the literature

Am J Med Genet. 1997 May 2;70(1):52-7. doi: 10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>;2-w.


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 multigenerational 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-Zweimüller, and Wagner syndromes, and conclude that Marshall syndrome is a distinct entity.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Craniofacial Abnormalities / genetics
  • Ectodermal Dysplasia / genetics
  • Eye Abnormalities / genetics
  • Female
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Male
  • Pedigree
  • Syndrome