Article
The cardio-facio-cutaneous (CFC) syndrome: autosomal dominant inheritance in a large family.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1992
Fryns J P, Volcke P, Van den Berghe H
Abstract excerpt
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.
Topics
- Adolescent
- Child
- Chromosome Aberrations
- Chromosome Disorders
- Facial Bones
- Genes, Dominant
- Humans
- Intellectual Disability
- Male
- Noonan Syndrome
- Pedigree
- Phenotype