Back issues No.2 - 2006 / Case Report  

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Cardio-facio-cutaneous Syndrome - A Case Report
Feng-Jie Lai , Hamm-Ming Sheu
Dermatol Sinica 24:140-144,2006

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.

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