Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.

•Fetal akinesia deformation sequence is a genetically heterogeneous disorder.•The nebulin gene is involved in the etiology of lethal multiple pterygium syndrome.•NEB mutations are associated with a wide spectrum of phenotypic manifestations.•Next generation sequencing is a valuable tool for the evaluation of fetal akinesia.