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Case Reports
. 2004 Feb 2:5:1.
doi: 10.1186/1471-2350-5-1.

A case of familial isolated hemihyperplasia

Heidi A Heilstedt  1 , Carlos A Bacino
Affiliations
Case Reports

A case of familial isolated hemihyperplasia

Heidi A Heilstedt et al. BMC Med Genet. .

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.

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Figures

Figure 1
Figure 1
Patient 2 with hemihyperplasia involving the upper and lower right extremities. The leg length discrepancy can be noted by the pelvic tilt.
Figure 2
Figure 2
Pedigree. III-1, III-3, II-2, and II-6 were examined by the authors.
See this image and copyright information in PMC

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