Cardio-Facio-Cutaneous Syndrome-A Case Report

Abstract

We report on a 9-year-old boy with typical manifestations of cardio-facio-cutaneous (CFC) syndrome. The patient was affected by congenital heart defects, short stature, mild mental retardation and cutaneous abnormalities, including dry skin, eczematous skin, sparse, curly eyebrows/eyelashes, mildly curly hair, a peculiar craniofacial appearance with low-set posteriorly rotated ears. Clinically, CFC syndrome has several features in common with Costello syndrome (CS) and Noonan syndrome (NS) including craniofacial changes, growth retardation, development delay, and heart defects. CFC syndrome and CS can be distinguished from NS by the presence of ectodermal abnormalities, mental retardation and a lack of familial cases. CFC syndrome can be distinguished from CS by the rare presence of papillomata, fetal pads, acanthosis nigricans, wrinkled palms and soles, and loose skin of the hands and feet. This is the first reported case of this disease in Taiwan. We also review the literature concerning the clinical course and pathogenesis of this uncommon entity.