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
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.