Somer M, Peippo M, Aalto-Korte K, Ritvanen A, Niemi K M
Department of Medical Genetics, University of Helsinki, Finland.
Am J Med Genet. 1992 Nov 15;44(5):691-5. doi: 10.1002/ajmg.1320440531.
We report on 3 patients with the cardio-facio-cutaneous (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.