The cardio-facio-cutaneous (CFC) syndrome: autosomal dominant inheritance in a large family.
A large, three generation-family with firm evidence of autosomal dominant transmission of the cardio-faciocutaneous (CFC) syndrome is reported. This observation questions once more the validity of separating the CFC syndrome from the Noonan syndrome as two distinct entities.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Volcke
P
P
Van den Berghe
H
H
D000293:Adolescent; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000517:prevention & control; D025063:Chromosome Disorders; D005147:Facial Bones / Q000002:abnormalities*; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000517:prevention & control; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics* / Q000517:prevention & control; D010375:Pedigree; D010641:Phenotype