Smith-Lemli-Opitz syndrome (SLOS) belongs to a group of multiple congenital anomaly/developmental delay disorders. Its primary cause lies in the defect in cholesterol biosynthesis—7-dehydrocholesterol reductase (DHCR7)—caused by pathogenic variants in the homonymous gene. Anthropometric anomalies, especially growth restriction and microcephaly, are among the most common physical manifestations of SLOS. There have been no studies analyzing the correlation between genotype, biochemical marker (7-dehydrocholesterol), and the birth and growth parameters for individuals with SLOS. This paper presents anthropometric data from the group of 65 Polish patients (aged 0.1 to 18 years) with Smith-Lemli-Opitz syndrome, with genotype and biochemical correlations for birth parameters, as well as growth in relation to molecular DHCR7 variants.

Smith-Lemli-Opitz 综合征 (SLOS) 属于一组多发性先天性异常/发育迟缓症。其主要原因在于胆固醇生物合成的缺陷——7-脱氢胆固醇还原酶 (DHCR7)——由同源基因中的致病变异引起。人体测量异常，尤其是生长受限和小头畸形，是 SLOS 最常见的身体表现之一。没有研究分析 SLOS 患者的基因型、生化标志物（7-脱氢胆固醇）与出生和生长参数之间的相关性。本文介绍了来自 65 名患有 Smith-Lemli-Opitz 综合征的波兰患者（0.1 至 18 岁）的人体测量数据，具有出生参数的基因型和生化相关性，以及与分子DHCR7 相关的生长 变种。