Werner syndrome (progeria of adults) 1

General: Etiology unknown; recessive inheritance; consanguinity; second and 636c25g third decades; possible mechanisms have been proposed to explain mutation of a gene causing inhibition of deoxyribonucleic acid (DNA) synthesis and early cellular senescence.

Ocular: Absence of eyelashes and scanty eyebrows; blue sclera; juvenile cataracts; bullous keratitis; trophic corneal defects; paramacular retinal degeneration; proptosis; telangiectasia of lid; astigmatism; nystagmus; presbyopia; uveitis.

Clinical: Leanness; short stature (160 cm maximum); thin limbs; short, deformed fingers; small mouth; early baldness; stretched, atrophic skin (scleropoikiloderma); telangiectasia and trophic indolent ulcers on toes, heels, and ankles; arteriosclerosis with secondary heart failure.

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Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

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