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SHORT syndrome

Koenig, Rainer; Brendel, Leticia; Fuchs, Sigrun

ORIGINAL ARTICLES

We describe a mother and her son with short stature, progeroid facies, Rieger anomaly, teething delay, and mild developmental retardation, particularly speech delay, which are characteristic features of the SHORT syndrome. An additional sign of all described patients is the slight build with lack of subcutaneous fat. Resistance to insulin was suggested by an oral glucose tolerance test in the mother, whereas the test was normal in the index patient at the age of 2 years 2 months. We review the literature and discuss the name-giving symptoms critically. Five familial cases in different generations, equally affected male and female patients and male-to-male transmission point to an autosomal dominant mode of inheritance.

Institute of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany

Correspondence and request for reprits to Rainer Koenig, Institut für Humangenetik, Theodor-Stern-Kai 7, 60590 Frankfurt, Germany

Tel: +49 69 6301 6416; Fax: +49 69 6301 6002;

e-mail: r.koenig@em.uni-frankfurt.de

Received 10 October 2001 Accepted 19 April 2002

Copyright © 2003 Wolters Kluwer Health, Inc. All rights reserved