THE MARSHALL-SYNDROME - REPORT OF A NEW FAMILY AND REVIEW OF THE LITERATURE

Citation
Al. Shanske et al., THE MARSHALL-SYNDROME - REPORT OF A NEW FAMILY AND REVIEW OF THE LITERATURE, American journal of medical genetics, 70(1), 1997, pp. 52-57
Citations number
16
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
70
Issue
1
Year of publication
1997
Pages
52 - 57
Database
ISI
SICI code
0148-7299(1997)70:1<52:TM-ROA>2.0.ZU;2-O
Abstract
The Marshall syndrome is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, an d anhidrotic ectodermal dysplasia, To our knowledge, only seven additi onal multigenerational families have been reported since the initial d escription of the disorder by Marshall in 1958. We present a family in which six members in four generations are affected with apparent Mars hall syndrome. We also review and compare similar disorders, such as S tickler, Weissenbacher-Zweimuller, and Wagner syndromes, and conclude that Marshall syndrome is a distinct entity. (C) 1997 Wiley-Liss, Inc.