| Literature DB >> 9129742 |
A L Shanske1, A Bogdanow, R J Shprintzen, R W Marion.
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 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.Entities:
Mesh:
Year: 1997 PMID: 9129742 DOI: 10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>3.0.co;2-w
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299