Figure 1. Pedigrees and electropherograms of five families with a causative DNA variant and craniofacial appearance of probands 694, 713, and 859.

Black squares and circles denote affected males and females with hearing loss, respectively. Proband 694 has a square face with prominent nasal bridge and columella. Other facial features of CHARGE syndrome such as facial palsy or outer ear findings are missing. Proband 713 has hypertelorism and slightly low-set, posteriorly rotated ears. Other facial features of Noonan/LEOPARD syndrome such as epicanthal folds or ptosis is missing. Proband 859 shows telechantus, epicanthal folds, slightly downslanting palpebral fissures with short columella. Facial features of Kabuki syndrome including long palpebral fissures with eversion of the lateral lower eyelid, arched and broad eyebrows with the lateral third displaying sparseness, and large or prominent ears are missing.