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Case Report

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study

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Pages 389-398 | Published online: 06 Sep 2021

Figures & data

Figure 1 Facial phenotype (AC), occlusion (D) and panoramic radiograph (E).

Figure 1 Facial phenotype (A–C), occlusion (D) and panoramic radiograph (E).

Figure 2 Hypertrophy of the pharyngeal tonsil registered using a flexible endoscope and EndoSTROB EL videostroboscope f. Xion.

Figure 2 Hypertrophy of the pharyngeal tonsil registered using a flexible endoscope and EndoSTROB EL videostroboscope f. Xion.

Figure 3 Asymmetry of arytenoid cartilages with edema and redness of intraarytenoid area; (A) respiratory position of vocal folds, (B) phonatory position of vocal folds.

Figure 3 Asymmetry of arytenoid cartilages with edema and redness of intraarytenoid area; (A) respiratory position of vocal folds, (B) phonatory position of vocal folds.

Figure 4 Voice acoustic analysis using Diagnoscope Specjalista by Diagnova Technologies; (A) collective analysis of acoustic parameters, (B) narrowband spectrography.

Figure 4 Voice acoustic analysis using Diagnoscope Specjalista by Diagnova Technologies; (A) collective analysis of acoustic parameters, (B) narrowband spectrography.

Figure 5 Bilateral sensorineural hearing loss. (A) DP-grams registered with Madsen Capella2; (B) tympanograms registered with Madsen Otoflex 100 by Otometrics.

Figure 5 Bilateral sensorineural hearing loss. (A) DP-grams registered with Madsen Capella2; (B) tympanograms registered with Madsen Otoflex 100 by Otometrics.