Nwokoro N A, Hyde B, Mulvihill J J
Department of Human Genetics, University of Pittsburgh, PA 15261.
Am J Med Genet. 1994 May 1;50(4):375-6. doi: 10.1002/ajmg.1320500415.
Pursuit of a possible metabolic basis for an unrecognized pattern of multiple congenital anomalies in a newborn girl led to the detection of a huge elevation of plasma 7-dehydrocholesterol at age 8 months. The biochemical findings and the evolving clinical picture led to the diagnosis of Smith-Lemli-Opitz syndrome at age 11 months. High cholesterol diet may have improved the rate of developmental progress.
对一名患有多种先天性异常但未被识别模式的新生女婴可能的代谢基础进行探索，结果在其8个月大时检测到血浆7-脱氢胆固醇大幅升高。这些生化检查结果及不断演变的临床症状在其11个月大时确诊为史密斯-利姆利-奥皮茨综合征。高胆固醇饮食可能改善了发育进程。
