鲁宾斯坦-泰比综合征与塞特雷-乔岑综合征的重叠：一例报告
Overlap between Rubinstein-Taybi and Saethre-Chotzen syndromes: a case report.
作者信息
Lowry R B
机构信息
Department of Pediatrics, University of Calgary, Alberta, Canada.
出版信息
Am J Med Genet Suppl. 1990;6:73-6. doi: 10.1002/ajmg.1320370613.
PMID:2118783
Abstract
This report concerns a 14-year follow-up of a patient whose clinical manifestations led to a diagnosis of Rubinstein-Taybi syndrome; however, his intelligence is normal. Reappraisal resulted in a change of diagnosis to Saethre-Chotzen syndrome. Overlapping manifestations in the 2 syndromes are discussed.
摘要
本报告涉及对一名患者进行的14年随访，该患者的临床表现曾导致诊断为鲁宾斯坦-泰比综合征；然而，其智力正常。重新评估后诊断改为塞特雷-乔岑综合征。文中讨论了这两种综合征的重叠表现。
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