A case of familial isolated hemihyperplasia

BMC Medical Genetics

Carlos A Bacino¹  Heidi A Heilstedt¹ 

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

关键词: overgrowth;    familial hemihyperplasia;    imprinting;    hemihypertrophy;    hemihyperplasia;   

Others  :  1178791
DOI  :  10.1186/1471-2350-5-1

 received in 2003-11-18, accepted in 2004-02-02,  发布年份 2004

【 摘 要 】

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.

【 授权许可】

   
2004 Heilstedt and Bacino; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL.

【 图 表 】

Figure 1.

Figure 2.

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