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Concurrence of robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins
Authors:Talaat I. Farag  Ahmad S. Teebi
Affiliation:Kuwait Medical Genetics Centre, Maternity Hospital, Kuwait
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.
Keywords:midline field defect  new syndrome  Opitz syndrome  mental retardation  consanguinity
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