| Literature DB >> 15096145 |
G Weiss1, Y Confino, A Shemer, H Trau.
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.Entities:
Mesh:
Year: 2004 PMID: 15096145 DOI: 10.1111/j.1468-3083.2004.00365.x
Source DB: PubMed Journal: J Eur Acad Dermatol Venereol ISSN: 0926-9959 Impact factor: 6.166