case_images: PMC10865368_01
case_images: (A), Patient at 3 years 10 month old. Microglossia and dental anomalies. (B), Patient at 10 months of age showing limited outward gaze (abduction) of the right eye. (C-F). Patient at 9 years old. Ocular motility patterns. (C), Straight gaze showing mild esotropia of the right eye. (D), Horizontal left gaze showing limited abduction on the left eye. (E), Horizontal right gaze showing limited abduction on the right eye. (F), Full vertical eye movement. Exotropia in upper gaze.
case_images: fgene-15-1291063-g001.jpg
case_images: PMC10865368_01_fgene-15-1291063-g001.jpg
case_images: F1
case_images: He was referred to a clinical genetics service at 2 months of age due to the microglossia (Figure 1A), limited tongue movements, left-winged scapula, and altered ocular mobility (Figure 1B). His left eye position has been centred but remains with limited abduction and his right eye remains with limited abduction and mild esotropia (Figures 1C-E). There is no limitation in his upper gaze (Figure 1F).
case_images: (A), Patient at 4 years 10 month old. Movements of the lower part of the forehead are reduced. (B,C), Patient at 9 years old showing mild facial palsy. (B), the patient cannot fully smile and when he smiles there is a mild asymmetry. (C), Limited mouth movements (he cannot blow). (D), Patient at 9 years old. Microglossia and dental anomalies.
case_images: fgene-15-1291063-g002.jpg
case_images: PMC10865368_01_fgene-15-1291063-g002.jpg
case_images: F2
case_images: He presents hypomimia with reduced movements of the lower part of the forehead (Figure 2A). He cannot fully smile and when he smiles there is a mild asymmetry (Figure 2B) and he cannot blow (Figure 2C). He presents malposition of the teeth (requiring orthodontics) and alterations of the dental enamel (presenting multiple cavities and needing corrective interventions since early childhood) (Figure 2D).