Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases.
We describe two new cases of cardio-facio-cutaneous (CFC) syndrome, and underline the clinical variability of the CFC phenotype in our two patients presenting with border-line psychomotor development. The first patient showed some additional clinical manifestations, such as cryptorchidism and scoliosis, and the second one had atypical skin lesions.
Department of Pediatrics, University of Naples, Italy.
M
M
Ghezzi
G
G
Parenti
R
R
de Franchis
V
V
Farina
F
F
de Leva
A
A
Guarino
R B
RB
Canani
P
P
Strisciuglio
D003456:Cryptorchidism; D005260:Female; D006344:Heart Septal Defects, Atrial; D006391:Hemangioma; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D011666:Pulmonary Valve Stenosis; D012600:Scoliosis; D012878:Skin Neoplasms; D013577:Syndrome