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, G., de Franchis, R., Farina, V., de Leva, F., Guarino, A., BERNI CANANI, R., Strisciuglio, P.. - 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.File in questo prodotto:
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