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Fig. 2 | BMC Medical Genomics

Fig. 2

From: A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome

Fig. 2

Ossicular chain malformations in IV-1 and IV-4. A-F CT scans of the TCS proband revealed ossicular chain anomalies. A, B Bilateral fusion of the anterior and posterior stapedial crura. C A normal stapes. D, E Malformation of the long crus of the incus. F A normal long crus of the incus. G Three-dimensional reconstruction of the ossicular chain of IV-1, IV-4 and normal person. Red block: stapes without footplate; Black block: malformation of incus H Intraoperatively, the ossicular chain anomalies in IV-1 and IV-4 were similar. CT: chorda tympani; FN: facial nerve; ST: stapes; RWN: round window niche

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