Stratton R F, Young R S, Heiman H S, Carter J M
South Texas Genetic Center, San Antonio 78229.
Am J Med Genet. 1993 Mar 1;45(5):562-4. doi: 10.1002/ajmg.1320450507.
We report on a premature female infant with Fryns syndrome who had several less commonly reported anomalies. She had bilateral posterior eventration of the hemidiaphragms instead of the usual diaphragmatic defects with visceral herniation into the chest cavity. She also had a unilateral cleft lip, camptodactyly, duodenal atresia, tracheomalacia, bronchomalacia, and Tetralogy of Fallot.
我们报告了一名患有弗林斯综合征的早产女婴,她有几种较少见的异常情况。她双侧半膈肌膨出,而非常见的膈肌缺损伴内脏疝入胸腔。她还患有单侧唇裂、屈曲指、十二指肠闭锁、气管软化、支气管软化和法洛四联症。