Doyard and colleagues studying cases with overlap with Stuve-Wiedemann syndrome with bent bones characterized a further form of OI with multiple vertebral compression fractures and blue sclerae resulting from mutations in the gene TENT5A coding for Terminal Nucleotidyltransferase 5A previously known as FAM46A, Family with sequence similarity 46, Member A [66]. This evidence concerns the gene TENT5A and Stuve-Wiedemann syndrome.