Register for email alerts and news feeds:
This journal | BMJ Group
rss
Journal of Medical Genetics 1993;30:877-879; doi:10.1136/jmg.30.10.877
Copyright © 1993 by the BMJ Publishing Group Ltd.

Long survival of a patient with Marshall-Smith syndrome without respiratory complications.

D Sperli, D Concolino, C Barbato, P Strisciuglio, G Andria

Department of Paediatrics, Faculty of Medicine, Catanzaro, University of Reggio Calabria, Italy.

The Marshall-Smith syndrome is characterised by overgrowth, accelerated skeletal maturation, and dysmorphic facial features, often associated with mental retardation of variable degree. Most of the reported patients died in the first three years of life mainly because of respiratory problems. We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the corpus callosum, but has no respiratory problems so far. This observation underlines the clinical variability of the Marshall-Smith syndrome and indicates that life expectancy may be prolonged.


Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?

This article has been cited by other articles:

  • Sotos, J. F. (1997). Overgrowth. CLIN PEDIATR 36: 155-170  

This Article

Services
Citing Articles
Google Scholar
PubMed
Bookmark with

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Genetics jobs

Genetics jobs