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Es un trastorno hereditario caracterizado por ojos grandes, nariz en silla de montar, protuberancia frontal (frente prominente), prognatismo (mentón prominente), numerosos carcinomas de células basales (un tipo de cáncer de piel) y anomalías del esqueleto. Esta persona presenta múltiples pápulas de color carne en forma de cúpula sobre la cara, las cuales son cánceres de células basales, y hoyuelos palmares.
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