Premium
Clinical variability of cardio‐facio‐cutaneous syndrome: report of two additional cases
Author(s) -
Ghezzi Monica,
Parenti Giancarlo,
Franchis Raffaella,
Farina Vincenzo,
Leva Francesco,
Guarino Alfredo,
Canani Roberto Berni,
Strisciuglio Pietro
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03239.x
Subject(s) - genetics , medicine , dermatology , biology
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.