Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature |
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Authors: | G Weiss&dagger &Dagger ,Y Confino&dagger ,A Shemer&dagger &Dagger ,H Trau&dagger &Dagger |
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Affiliation: | Department of Dermatology, Sheba Medical Center, Tel Hashomer, Israel. teamsackler@aol.com |
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Abstract: | We report one patient with cardiofaciocutaneous (CFC) syndrome. He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread keratosis pilaris, a peculiar craniofacial appearance with sparse, curly hair and low-set posteriorly rotated ears; congenital heart defects; and mild mental and motor retardation. We submit a comprehensive review of previously published articles regarding the dermatological findings in CFC syndrome (recently shown to be a variant of Noonan syndrome) emphasizing diagnostic criteria and its differentiation from the Costello syndrome. |
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Keywords: | cardiofaciocutaneous CFC Costello Noonan review syndrome |
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