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.
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases / Ghezzi, M; Parenti, Giancarlo; de Franchis, R; Farina, Vincenzo; de Leva, F; Guarino, Alfredo; BERNI CANANI, Roberto; Strisciuglio, Pietro. - In: CLINICAL GENETICS. - ISSN 0009-9163. - STAMPA. - 42:(1992), pp. 206-209.
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases.
PARENTI, GIANCARLO;FARINA, VINCENZO;GUARINO, ALFREDO;BERNI CANANI, ROBERTO;STRISCIUGLIO, PIETRO
1992
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
