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Article

A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years.

American journal of medical genetics. Part A - 1 Sept 2025

Shimura Kazuhiro, Toki Machiko, Tsujioka Yuko, Nishimura Gen, Ishii Tomohiro, Hasegawa Tomonobu

Abstract excerpt

Premature aging syndrome, Penttinen type (Penttinen syndrome) is a progeroid syndrome with facial alterations (thin hair and progressive recession of the maxillozygomatic bones with pseudoprognathism), skin abnormalities (scleroderma with epidermal and dermal atrophy, lipoatrophy, chronic ulcers, and keloid-like hypertrophic lesions), corneal changes (vascularization and opacity), cerebral vascular anomalies, and...

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Source

Identifiers

PMID: 40248971
DOI: 10.1002/ajmg.a.64088

Genes

PDGFRB

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