A case of familial isolated hemihyperplasia.
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.


METHODS
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.
Heilstedt
Heidi A
HA
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. hah@bcm.tmc.edu
Bacino
Carlos A
CA
D002675:Child, Preschool; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D010375:Pedigree