Angle B, Hersh J H
Child Evaluation Center, Department of Pediatrics, University of Louisville, Kentucky 40202, USA.
Am J Med Genet. 1997 Aug 8;71(2):211-4.
We report on a female with lymphedema, facial anomalies, intestinal lymphangiectasia, and moderate mental retardation consistent with the diagnosis of Hennekam syndrome. In addition, she had a number of other anomalies not previously described in this autosomal recessive disorder, including a congenital heart defect, atretic ear canals, vesicoureteral reflux, and rectal prolapse.
我们报告了一名患有淋巴水肿、面部畸形、肠道淋巴管扩张症以及中度智力障碍的女性,这些症状符合亨内坎综合征的诊断。此外,她还有一些此前在这种常染色体隐性疾病中未被描述过的其他畸形,包括先天性心脏缺陷、闭锁耳道、膀胱输尿管反流和直肠脱垂。