Seller M J, Russell J, Tint G S
Division of Medical and Molecular Genetics, United Medical School of Guy's Hospital, London, United Kingdom.
Am J Med Genet. 1995 Apr 10;56(3):265-8. doi: 10.1002/ajmg.1320560305.
We describe a fetus with abnormalities suggestive, but not typical, of severe Smith-Lemli-Opitz syndrome (SLO). Biochemical studies demonstrated that there was a defect of cholesterol biosynthesis similar to that recently discovered in children with SLO. The findings in this fetus extend even further the wide spectrum of abnormalities of the SLO phenotype, and emphasize that a genetic pathological examination and biochemical studies should always be undertaken on atypical cases, especially fetuses.
我们描述了一名胎儿，其异常表现提示可能患有严重的史密斯-勒米-奥皮茨综合征（SLO），但并不典型。生化研究表明，该胎儿存在胆固醇生物合成缺陷，这与最近在患有SLO的儿童中发现的情况类似。该胎儿的发现进一步扩展了SLO表型异常的广泛范围，并强调对于非典型病例，尤其是胎儿，应始终进行基因病理学检查和生化研究。
