Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?Am J Med Genet. 1990 Apr; 35(4):516-8.AJ
We report on 3 brothers with hypertelorism, hypospadias, and tetralogy of Fallot. Parents are first cousins once removed; the father has apparent hypertelorism. An apparently normal paternal uncle who is married to a second cousin also has a daughter with hypertelorism and tetralogy of Fallot. All similarly affected relatives have mild or borderline mental retardation. The combination of anomalies may represent a previously undescribed autosomal recessive disorder.