The cardio-facio-cutaneous (CFC) syndrome: autosomal dominant inheritance in a large family

J P Fryns; P Volcke; H Van den Berghe

The cardio-facio-cutaneous (CFC) syndrome: autosomal dominant inheritance in a large family

Genet Couns. 1992;3(1):19-24.

Authors

J P Fryns¹, P Volcke, H Van den Berghe

Affiliation

¹ Center for Human Genetics, University of Leuven, Belgium.

PMID: 1590976

Abstract

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.

MeSH terms

Adolescent
Child
Chromosome Aberrations / genetics*
Chromosome Aberrations / prevention & control
Chromosome Disorders
Facial Bones / abnormalities*
Genes, Dominant / genetics*
Humans
Intellectual Disability / genetics*
Intellectual Disability / prevention & control
Male
Noonan Syndrome / genetics*
Noonan Syndrome / prevention & control
Pedigree
Phenotype