Hutchinson-Gilford progeria syndrome

Autor: Zahoor Hussain Daraz, A. B. M. Osman Hayder Mazumder, Shahana A. Rahman
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Bangabandhu Sheikh Mujib Medical University Journal, Vol 10, Iss 2 (2017)
Druh dokumentu: article
ISSN: 2074-2908
2224-7750
DOI: 10.3329/bsmmuj.v10i2.32707
Popis: Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease in which symptoms of aging are manifested at an early age. In the present report, we describe a 9 months old female child presented with a history of progressive coarsening of skin, failure to thrive and irregular bumps over thighs, buttocks and lower limbs for the last 7½ months. In the course of time, she developed alopecia, hyperpigmented spots over the abdomen with thickening and a typical facial profile of HGPS including micrognathia, absent ear lobules, prominent eyes, loss of eyelashes, eyebrows and a bluish hue over the nose.
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