📘 Chapter 111 · Hutchinson-Gilford Progeria Syndrome (Progeria)

Nelson Textbook of Pediatrics 22nd Ed. LMNA gene mutation (c.1824C>T, p.G608G) → progerin accumulation. Alopecia, lipodystrophy, joint contractures, severe atherosclerosis, short stature. Treatment: lonafarnib (farnesyltransferase inhibitor).