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Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Am+J+Med+Genet 1992 ; 44 (5): 691-5 Nephropedia Template TP
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Cardio-facio-cutaneous syndrome: three additional cases and review of the literature #MMPMID1481834
Somer M; Peippo M; Aalto-Korte K; Ritvanen A; Niemi KM
Am J Med Genet 1992[Nov]; 44 (5): 691-5 PMID1481834show ga
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.