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Hutchinson - Gilford progeria syndrome: A rare case report
oleh: Subhash Kashyap, Vinay Shanker, Neeraj Sharma
Format: | Article |
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Diterbitkan: | Wolters Kluwer Medknow Publications 2014-01-01 |
Deskripsi
Hutchinson - Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome. This interesting case is reported for its rarity.