Lemire Edmond G
Division of Medical Genetics, Department of Pediatrics, Royal University Hospital and University of Saskatchewan, 103 Hospital Drive, Saskatoon, Saskatchewan, S7N 0W8, Canada.
Am J Med Genet. 2002 Dec 1;113(3):286-90. doi: 10.1002/ajmg.10782.
This is a report on a father and his two children with an apparent autosomal dominant condition characterized by craniofacial anomalies, coarctation of the aorta, hypertrophic cardiomyopathy, and other structural heart abnormalities with normal psychomotor development. Some clinical features are reminiscent of Noonan syndrome. Alternatively, this family may have a previously undescribed genetic condition. The family history is suggestive of a new autosomal dominant mutation in the father.
这是一份关于一位父亲及其两个孩子的报告，他们患有一种明显的常染色体显性疾病，其特征为颅面异常、主动脉缩窄、肥厚型心肌病以及其他结构性心脏异常，而精神运动发育正常。一些临床特征使人联想到努南综合征。或者，这个家族可能患有一种此前未被描述的遗传病。家族史提示父亲存在一个新的常染色体显性突变。
