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Related Experiment Videos

The Proteus syndrome

S Alavi1, A Chakrapani, A Kher

  • 1Dept of Paediatrics, KEM Hospital, Parel, Bombay, Maharashtra.

Journal of Postgraduate Medicine
|October 1, 1993
PubMed
Summary
This summary is machine-generated.

This case study presents Proteus syndrome, a rare hamartomatous condition causing partial gigantism and hemihypertrophy. Despite severe cosmetic challenges, the child exhibited normal developmental milestones.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Clinical Case Reports

Background:

  • Proteus syndrome is an extremely rare congenital hamartomatous disorder.
  • It is characterized by asymmetric, progressive overgrowth and multiple congenital anomalies.
  • The genetic basis is linked to somatic mosaicism for activating mutations in the AKT1 gene.