The CFC syndrome--report of the first two cases outside the United States.
We report on two additional patients with the cardiofaciocutaneous (CFC) syndrome, the first to be reported outside the United States. They have several of the characteristic manifestations of this new multiple congenital anomalies/mental retardation syndrome, namely, mental retardation, growth retardation, relative macrocephaly, unusual face, abnormal hair, skin involvement, heart defect, hernias, and splenomegaly. Similar to all previously reported cases, these also were sporadic and had normal chromosomes.
Istituto di Genetica Umana, Facoltà di Medicina A. Gemelli, U.C.S.C., Roma, Italy.
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G
Neri
G
G
Sabatino
E
E
Bertini
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M
Genuardi
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D006197:Hair / Q000002:abnormalities*; D006345:Heart Septal Defects, Ventricular; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D007558:Italy; D008297:Male; D012868:Skin Abnormalities; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome