A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes
Axial CT bone windows of the temporal bones revealed a markedly enlarged incus with possible fixation in both the right (a) and the left ears (a). Coronal reformats on the left (c) demonstrated an elongated stapes superstructure of approximately 4.8 mm (dashed line) with thickening of the incus long process (arrowhead). On the right (d), this measurement was 4.5 mm. Coronal views of the right ear demonstrated bony dehiscence or thinning in the tegmen mastoideum without meningoencephalic herniation. Similar findings were noted on the left.