Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?
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.
Farag
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Kuwait Medical Genetics Centre, Maternity Hospital.
Teebi
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D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis*; D007021:Hypospadias / Q000175:diagnosis*; D007223:Infant; D008297:Male; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000175:diagnosis*