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Open Access Highly Accessed Case report

A case of familial isolated hemihyperplasia

Heidi A Heilstedt and Carlos A Bacino*

Author Affiliations

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA

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BMC Medical Genetics 2004, 5:1  doi:10.1186/1471-2350-5-1

Published: 2 February 2004

Abstract

Background

Hemihyperplasia (hemihypertrophy) is defined as asymmetric body overgrowth of one or more body parts. Hemihyperplasia can be isolated or be part of well-defined syndromes such as in the case of Beckwith-Wiedemann syndrome (BWS). Isolated hemihyperplasia is usually sporadic, but a number of familial occurrences have been described.

Case presentation

We describe a Tunisian family in which three maternal cousins and their maternal grandfather present with isolated hemihyperplasia.

Conclusions

The etiology of isolated hemihyperplasia is unknown although in BWS, genomic imprinting has been shown to play a role in the asymmetric overgrowth. Given the similarity between these two conditions, it is possible that both may share a common pathogenesis. We also discuss the possible genetic mechanisms leading to the production of hemihyperplasia in this family.

Keywords:
hemihyperplasia; hemihypertrophy; imprinting; familial hemihyperplasia; overgrowth