Progeria diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

There is no single diagnostic study of choice for the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS).

Diagnostic Study of Choice

  • The diagnosis of Hutchinson-Gilford progeria syndrome (HGPS) is based on the clinical presentation, which include the following:
    • Failure to thrive in the first year of life
    • Very peculiar facial presentation which include:
      • Micrognathia(Jaw is undersized)
      • Prominent eyes(protruding eyes)
      • Circumoral cyanosis(blue discoloration around the mouth)
    • Alopecia
    • Prominent scalp veins
    • Sclerotic skin changes
    • Joint contractures
    • Decreased range of motion in the joints

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