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.

译文

:我们报道了3位患有高智主义,尿道下裂和法洛四联症的兄弟。父母一旦被移走,便是堂兄。父亲有明显的超级主义。一个显然与第二个表亲结婚的正常父叔叔也有一个女儿,患有超视主义和法洛四联症。所有受到类似影响的亲属均患有轻度或边缘性智力障碍。异常的组合可以代表先前未描述的常染色体隐性遗传疾病。

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