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