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Published on: August 8, 2022
A case of familial isolated hemihyperplasia
Heidi A Heilstedt1, Carlos A Bacino
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. hah@bcm.tmc.edu
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.
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