We detected a pathogenic variant in sample F10177-2 located at the FLNB gene (NM_001457:c.605T > C:p.M202T), and associated with a lethal form of SD (Ateleosteogenesis type 1/Boomerang dysplasia) (Daniel et al., 2012). The gene discussed is FLNB; the disease is Boomerang dysplasia.