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  • Title: Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?
    Author: Farag TI, Teebi AS.
    Journal: Am J Med Genet; 1990 Apr; 35(4):516-8. PubMed ID: 2333881.
    Abstract:
    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.
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