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Article

New progeroid disorder.

American journal of medical genetics - 17 Mar 1997

Penttinen M, Niemi K M, Vinkka-Puhakka H, Johansson R, Aula P

Abstract excerpt

We report on a 10-year-old Caucasian male with a prematurely aged appearance, delayed bone maturation and dental development, pronounced acro-osteolysis with brachydactyly, and distinctive cutaneous findings including hard, confluent skin lesions with some clinical and histologic resemblance to those of juvenile hyaline fibromatosis (JHF). He also had hyperopia, sensorineural hearing loss, and elevated TSH....

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Identifiers

PMID: 9056558

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