Matthews-Brzozowski Artur, Cudziło Dorota, Kopczyński Przemysław, Matthews-Kozanecka Maja, Rubiś Błażej
Poradnia Ortodontyczna Instytutu Matki i Dziecka w Warszawie, 0048 22 32-77-128,
Med Wieku Rozwoj. 2013 Jul-Sep;17(3):253-6.
The Smith-Lemli-Opitz syndrome (SLOS) is a congenital, genetically conditioned, metabolic disorder with autosomal recessive inheritance. The syndrome is caused by high levels of cholesterol precursors, i.e. 7-dyhdrocholesterol (DHCR7) and 8-dehydrocholesterol (DHCR8), which results in cholesterol synthesis disorders. Cholesterol deficiency leads to a series of developmental disorders in the foetus and in extreme cases even death. The diagnosis of that congenital metabolic disorder is difficult due to a diversity of clinical symptoms (there are many mutations of the DHCR7 and DHCR8 genes), which can be exemplified by such cases as that of the 5-year-old boy with SLOS described below. In the presentation the authors have emphasized the problems related to hygienic procedures of the oral cavity and dental treatment, as well as the importance of the early diagnosis of the syndrome and of cooperation with parents. The publication aims at drawing the attention of clinicians to the need of taking SLOS into account in the differential diagnostics in children.
史密斯-利姆利-奥皮茨综合征（SLOS）是一种先天性、遗传性代谢紊乱疾病，呈常染色体隐性遗传。该综合征由高水平的胆固醇前体，即7-脱氢胆固醇（DHCR7）和8-脱氢胆固醇（DHCR8）引起，导致胆固醇合成紊乱。胆固醇缺乏会导致胎儿出现一系列发育障碍，在极端情况下甚至会导致死亡。由于临床症状多样（DHCR7和DHCR8基因存在多种突变），这种先天性代谢紊乱疾病的诊断较为困难，如下文所述的一名患有SLOS的5岁男孩的病例即可例证。在报告中，作者强调了与口腔卫生程序和牙科治疗相关的问题，以及该综合征早期诊断和与家长合作 的重要性。该出版物旨在引起临床医生对在儿童鉴别诊断中考虑SLOS必要性的关注。
