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. 2022 Jan 28;30(5):619–627. doi: 10.1038/s41431-022-01046-5

Fig. 1. Clinical features of the patients.

Fig. 1

A Facial figure of Patient 1 shows a broad nose and low nasal bridge. B Facial figure of Patient 2 shows a low insertion of columella, long nose, and depressed nasal bridge. C Facial figure of Patient 3 shows a low insertion of columella, long nose, and depressed nasal bridge. He has alternating exotropia in his eyes. D, E Facial figures of Patient 4 show a brachycephalic skull, depressed nasal bridge, and exotropia in his right eye. F, G Facial figures of Patient 5 at the age of 4 and 26 years show facial muscular hypotonia, prominent forehead, depressed and wide nasal bridge, broad nasal tip, low insertion of columella, alternating exotropia in both eyes, and hypertropia in his right eye. H The palate of Patient 5 was high and narrow. I The hands of Patient 4 show brachydactyly. J Patient 5 at the age of 4 years showing his gestalt and planovalgus.