Limits...
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.

Show MeSH

Related in: MedlinePlus

Patient 2 with hemihyperplasia involving the upper and lower right extremities. The leg length discrepancy can be noted by the pelvic tilt.
© Copyright Policy
Related In: Results  -  Collection


getmorefigures.php?uid=PMC373451&req=5

Figure 1: Patient 2 with hemihyperplasia involving the upper and lower right extremities. The leg length discrepancy can be noted by the pelvic tilt.

Mentions: Patient 2 is the 5 year-old male maternal first cousin of the propositus (III:3). He also has been diagnosed with hemihyperplasia and is undergoing tumor screening by serial abdominal ultrasounds. He has had no signs, symptoms or radiographic findings suggestive of a neoplasm. His birth history is non-contributory. His development has been normal for age. He has hemihyperplasia of the right upper and lower extremities with a 3.5 cm leg length discrepancy (Figure 1) also recorded on the clinical exam. Otherwise his physical examination is normal. His neurological exam was normal as well. G-band chromosome analysis performed on peripheral blood lymphocytes, at approximately 550-band resolution level, was also reported as normal. Like in our previous case, no cytogenetic abnormalities were detected in the 11p15 region. Both patients 1 and 2 were examined by the authors.


A case of familial isolated hemihyperplasia.

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

Patient 2 with hemihyperplasia involving the upper and lower right extremities. The leg length discrepancy can be noted by the pelvic tilt.
© Copyright Policy
Related In: Results  -  Collection

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

Figure 1: Patient 2 with hemihyperplasia involving the upper and lower right extremities. The leg length discrepancy can be noted by the pelvic tilt.
Mentions: Patient 2 is the 5 year-old male maternal first cousin of the propositus (III:3). He also has been diagnosed with hemihyperplasia and is undergoing tumor screening by serial abdominal ultrasounds. He has had no signs, symptoms or radiographic findings suggestive of a neoplasm. His birth history is non-contributory. His development has been normal for age. He has hemihyperplasia of the right upper and lower extremities with a 3.5 cm leg length discrepancy (Figure 1) also recorded on the clinical exam. Otherwise his physical examination is normal. His neurological exam was normal as well. G-band chromosome analysis performed on peripheral blood lymphocytes, at approximately 550-band resolution level, was also reported as normal. Like in our previous case, no cytogenetic abnormalities were detected in the 11p15 region. Both patients 1 and 2 were examined by the authors.

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