Abnormal motor behavior at 23 weeks in a fetus with Smith–Lemli–Opitz syndrome (SLOS)


  • Funding sources: None

  • Conflicts of interest: None declared

Correspondence to: Marleen A. Hagen. E-mail: marleenhagen@gmail.com


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.