A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

Figure 1

Preoperative pure tone audiometry revealed bilateral moderate rising to mild conductive hearing loss on the right (a) and left (b). Ipsilateral and contralateral stapedial reflexes were absent bilaterally.

(a)

(b)