Atelosteogenesis type I (AOI) is a disease of autosomal dominant inheritance associated with mutations in the filamin B (FLNB) gene, located on chromosome 3p14, which encodes the filamin B protein.1 This syndrome includes a spectrum of phenotypes that may vary from mild, such as Larsen syndrome (LS) and spondylocarpotarsalsynostosis (STC), to severe conditions, such as atelosteogenesis type III (AOIII), and boomerang dysplasia. This evidence concerns the gene FLNB and Larsen syndrome.