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Related Experiment Videos

Hemihyperplasia syndromes.

Ashwin B Dalal1, Shubha R Phadke, Mandakini Pradhan

  • 1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 226014, India.

Indian Journal of Pediatrics
|August 1, 2006
PubMed
Summary

Hemihyperplasia, a condition of asymmetric limb growth, presents diagnostic challenges. This study clarifies its classification, identifying specific syndromes and novel associations to aid genetic counseling.

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Area of Science:

  • Medical Genetics
  • Pediatric Endocrinology
  • Dermatology

Background:

  • Hemihyperplasia is characterized by asymmetric limb overgrowth, often leading to diagnostic confusion.
  • Accurate classification of hemihyperplasia syndromes is crucial for understanding prognosis and genetic counseling.

Purpose of the Study:

  • To investigate the diverse clinical presentations and syndromic associations of hemihyperplasia.
  • To clarify the classification and diagnostic criteria for various hemihyperplasia syndromes.

Main Methods:

  • Retrospective review of 17 consecutive hemihyperplasia cases.
  • Ascertainment of cases into specific syndromes based on established literature and diagnostic criteria.

Main Results:

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  • Three cases were diagnosed with Proteus syndrome.
  • One case each identified as Klippel Trenaunay Weber syndrome and Hemihyperplasia-Multiple lipomatosis.
  • Nine cases classified as isolated hemihyperplasia; novel associations included Ehlers-Danlos syndrome-like skin changes and Poland anomaly. Two cases had Neurofibromatosis Type I, and one had Olliers disease.

    • Conclusions:

    • Syndromic diagnosis of hemihyperplasia is essential for effective genetic counseling.
    • This study contributes to a better understanding of the heterogeneity of hemihyperplasia.