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.
Ghezzi
M
M
Department of Pediatrics, University of Naples, Italy.
Parenti
G
G
de Franchis
R
R
Farina
V
V
de Leva
F
F
Guarino
A
A
Canani
R B
RB
Strisciuglio
P
P
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