Bindewald B, Ulmer H, Müller U
Institut für Humangenetik, Justus-Liebig Universität Giessen, Germany.
Am J Med Genet. 1994 Apr 1;50(2):173-6. doi: 10.1002/ajmg.1320500207.
We report on the syndromic occurrence of the Fallot complex in sibs born to consanguineous Pakistani parents. Additional manifestations included minor facial anomalies, pronounced failure to thrive, and mental retardation. Expression of the syndrome varied. While one of the four patients had cardiac malformations, another sib had only non-cardiac manifestations. The clinical findings suggest a new autosomal recessive syndrome.
我们报告了一对近亲结婚的巴基斯坦父母所生子女中出现的法洛四联症综合征。其他表现包括轻微面部异常、明显的生长发育迟缓以及智力迟钝。该综合征的表现各异。四名患者中有一名患有心脏畸形,而另一名同胞仅有非心脏表现。临床发现提示一种新的常染色体隐性综合征。