Cardio-facio-cutaneous (CFC) syndrome: Report of an adult without mental retardation |
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| Authors: | Siranoush Manoukian Faustina Lalatta Angelo Selicorni Gianluca Tadini Riccardo Cavalli Giovanni Neri |
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| Institution: | Laboratorio di Citogenetica, Istituti Clinici di Perfezionamento, II Clinica Pediatrica, and Centro Malattie Cutanee Ereditarie, Istituto di Scienze Dermatologiche, Università di Milano, Milano, Italy |
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| Abstract: | We report on a 25-year-old woman with typical manifestations of the cardio-facio-cutaneous (CFC) syndrome, but without mental retardation. She had valvular and infundibular pulmonic stenosis, brittle and woolly hair with patchy alopecia, scant body hair, dry and hypohydrotic skin, and characteristic facial traits. To our knowledge, this is the first case of CFC syndrome without mental retardation but typical cutaneous findings. © 1996 Wiley-Liss, Inc. |
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| Keywords: | cardio-facio-cutaneous syndrome mental retardation |
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