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A case of familial isolated hemihyperplasia.

Heilstedt HA, Bacino CA - BMC Med. Genet. (2004)

Bottom Line: 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).Given the similarity between these two conditions, it is possible that both may share a common pathogenesis.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. hah@bcm.tmc.edu

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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Pedigree. III-1, III-3, II-2, and II-6 were examined by the authors.
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Figure 2: Pedigree. III-1, III-3, II-2, and II-6 were examined by the authors.

Mentions: There are reportedly two additional individuals in this family affected with hemihyperplasia. One is a maternal first cousin to both patients 1 and 2 who is currently in Tunisia (III:7), whom by report has hemihyperplasia affecting the left leg. She is currently 10 years old and said to have no other manifestations besides her limb asymmetry. She also has normal development. She has no history of neoplasm and is currently undergoing abdominal ultrasound screening. Unfortunately she is unavailable for examination. The maternal grandfather (I:1), also unavailable for direct examination, is reported to have hemihyperplasia of the extremities on the right leg with no other obvious manifestations. He is currently 50 years old and lives in Tunisia. There is no consanguinity in this family. The family pedigree is shown in Figure 2.


A case of familial isolated hemihyperplasia.

Heilstedt HA, Bacino CA - BMC Med. Genet. (2004)

Pedigree. III-1, III-3, II-2, and II-6 were examined by the authors.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC373451&req=5

Figure 2: Pedigree. III-1, III-3, II-2, and II-6 were examined by the authors.
Mentions: There are reportedly two additional individuals in this family affected with hemihyperplasia. One is a maternal first cousin to both patients 1 and 2 who is currently in Tunisia (III:7), whom by report has hemihyperplasia affecting the left leg. She is currently 10 years old and said to have no other manifestations besides her limb asymmetry. She also has normal development. She has no history of neoplasm and is currently undergoing abdominal ultrasound screening. Unfortunately she is unavailable for examination. The maternal grandfather (I:1), also unavailable for direct examination, is reported to have hemihyperplasia of the extremities on the right leg with no other obvious manifestations. He is currently 50 years old and lives in Tunisia. There is no consanguinity in this family. The family pedigree is shown in Figure 2.

Bottom Line: 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).Given the similarity between these two conditions, it is possible that both may share a common pathogenesis.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. hah@bcm.tmc.edu

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.

Show MeSH
Related in: MedlinePlus