The Hutchinson-Gilford progeria syndrome: report of 4 cases and review of the literature

FL DeBusk - The Journal of pediatrics, 1972 - Elsevier
FL DeBusk
The Journal of pediatrics, 1972Elsevier
To emphasize and clarify the diagnostic features which distinguish the Hutchinson-Gilford
progeria syndrome from other conditions resembling premature aging, four patients are
described, the world literature is reviewed, and characteristics of 60 patients are correlated.
Patients with this syndrome are remarkably similar in appearance. They may exhibit certain
characteristics early in life, such as scleroderma-like skin, midfacial cyanosis, and
“sculptured” nasal tip. The earliest profound feature is growth deficiency in the first year of …
To emphasize and clarify the diagnostic features which distinguish the Hutchinson-Gilford progeria syndrome from other conditions resembling premature aging, four patients are described, the world literature is reviewed, and characteristics of 60 patients are correlated. Patients with this syndrome are remarkably similar in appearance. They may exhibit certain characteristics early in life, such as scleroderma-like skin, midfacial cyanosis, and “sculptured” nasal tip. The earliest profound feature is growth deficiency in the first year of life. Characteristic radiologic changes are persistent patency of anterior fontanelles, thin ribs, disappearance of distal clavicles and terminal phalanges, decrease in soft-tissue shadows, poor modeling of long bones, and coxa valga.
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