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Cardio-Facio-Cutaneous syndrome: Three additional cases and review of the literature

✍ Scribed by Somer, Mirja ;Peippo, Maarit ;Aalto-Korte, Kristiina ;Ritvanen, Annukka ;Niemi, Kirsti Maria

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 595 KB
Volume: 44
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320440531

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✦ Synopsis

Abstract

We report on 3 patients with the cardio‐faciocutaneous (CFC) syndrome. Each of them was a sporadic case in the family. The severity of the psychomotor retardation varied from mild to severe. Skin manifestations were often minimal, but each patient had abnormally curly and brittle hair. A skin biopsy from one of the patients showed vellus hair cysts filled with keratin, and the hair follicles were surrounded by unusually thick fibrotic sheaths. © 1992 Wiley‐Liss, Inc.

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