Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome.
We report on three patients with probable cardio-facio-cutaneous (CFC) syndrome. They present clinical findings of this condition such as: growth failure, heart defects, typical craniofacial appearance, ectodermal abnormalities, and developmental delay. We also give a detailed review of the previously published articles on CFC syndrome and discuss the differences between CFC, Noonan, and Costello syndromes. Other differential diagnoses are considered.
Wieczorek
D
D
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
Majewski
F
F
Gillessen-Kaesbach
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G
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006130:Growth Disorders; D006197:Hair / Q000002:abnormalities; D006344:Heart Septal Defects, Atrial; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D011666:Pulmonary Valve Stenosis; D012868:Skin Abnormalities; D013577:Syndrome