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

✍ Scribed by Shanske, Alan L.; Bogdanow, Anna; Shprintzen, Robert J.; Marion, Robert W.

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
656 KB
Volume
70
Category
Article
ISSN
0148-7299

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✦ Synopsis

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

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