Bzduch V, Behulova D, Pevalova L, Cisarik F, Benedekova M
First Department of Pediatrics, Comenius University Children's Hospital, Bratislava, Slovakia.
Bratisl Lek Listy. 2003;104(4-5):155-7.
The study describes a dysmorphic newborn infant with life-threating anomaly, later diagnosed as trisomy 18, mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period. The establishment of the correct diagnosis in the first days of life is very important for the decision-making process, because trisomy 18 has a poor prognosis, and treatment is not instituted, whereas cholesterol supplementation may be of benefit to patients with Smith-Lemli-Opitz syndrome. Ultraviolet spectrophotometry showed very easy and rapid method for differentiation of both syndromes, where gas chromatography/mass spectrometry analysis is not available. (Fig. 2, Ref: 18.)
该研究描述了一名患有危及生命异常的畸形新生儿，后来被诊断为18三体综合征，在新生儿早期酷似史密斯-勒米-奥皮茨综合征。在生命的最初几天确立正确诊断对决策过程非常重要，因为18三体综合征预后不良且不进行治疗，而补充胆固醇可能对史密斯-勒米-奥皮茨综合征患者有益。在没有气相色谱/质谱分析的情况下，紫外线分光光度法显示了一种非常简便快捷的区分这两种综合征的方法。（图2，参考文献：18）
