HEREDITARY FACTORS in many types of congenital heart disease have not been clearly delineated.2 Occasionally, heart lesions may be found in association with anomalies of the skeleton2-4 as well as with multiple system involvement.5-6 Such phenomena as these pose a challenge to medical geneticists and embryologists.
The purpose of this report is to present a family study of tetralogy of Fallot in a brother and sister. In addition, the brother manifested bizarre associated anomalies of the head and neck and mental subnormality. Genetic, cytogenetic, and embryologic considerations will be presented.
Materials and Methods
The proband was investigated while he was a patient on the medicine service of the University of Nebraska College of Medicine. Catheterization studies of the right side of the heart were performed. Detailed history from the age of 6 months will be reported. His sister, who had recently undergone surgical correction for tetralogy of