Cardiofaciocutaneous (CFC) syndrome.
An 11-year-old boy affected by mental retardation and seizures demonstrates congenital heart defect, many dysmorphic features and dry skin. His hair is sparse over the vertex with alopecia of the eyebrows and eyelashes. There are horny small papules evident in those areas. The diagnosis of cardiofaciocutaneous syndrome has been made. The relationship between cardiofaciocutaneous and Noonan syndrome is discussed.
Schepis
C
C
Unit of Dermatology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Italy.
Greco
D
D
Romano
C
C
D000015:Abnormalities, Multiple; D000505:Alopecia; D002648:Child; D006330:Heart Defects, Congenital; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D012871:Skin Diseases; D013577:Syndrome