What's already known about this topic?
- Smith–Lemli–Opitz syndrome is an autosomal recessive disorder in which various organs can be affected and the phenotypic expression varies.
- Evaluation of the quality of fetal movements can support the distinction of a specific syndrome in case of multiple affected organs.
What does this study add?
- With this case, we add early, in the second trimester of pregnancy, affected motor expression of the central nervous system.