Progeria-Short Stature-Pigmented Nevi Syndrome

Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.

Epidemiology

Less than ten cases have been described so far.

Clinical description

Other clinical features include immunodeficiency, high-pitched voice and progressive hearing and visual loss. Motor and intellectual development is normal or slightly impaired.