Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients

J Appl Genet. 2021 Sep;62(3):469-475. doi: 10.1007/s13353-021-00632-5. Epub 2021 Apr 22.


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.

Keywords: 7-Dehydrocholesterol; Anthropometry; DHCR7 gene; Growth; Smith-Lemli-Opitz syndrome.

MeSH terms

  • Adolescent
  • Anthropometry*
  • Child
  • Child, Preschool
  • Genotype
  • Humans
  • Infant
  • Oxidoreductases Acting on CH-CH Group Donors* / genetics
  • Poland
  • Smith-Lemli-Opitz Syndrome* / genetics


  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase