PMC8502069_01
Facial characteristics. (A) Image of the patient where microphthalmia and eversion of the lateral third of the eyelid are observed. (B) Image of the patient with arched eyebrows, long palpebral fissures and wide nasal bridge, facial characteristics of kabuki syndrome. (C) Patient's whole face image shows the dysmorphic characteristics previously described.
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Physical examination showed bilateral iris coloboma, right microphthalmia, inverse epicanthus, elongated palpebral fissures that inclined upwards, eversion of the lateral portion of the lower eyelid, anteverted nostrils, short columella, long philtrum, and normal ear position (Figure 1A and B).
Pedigree information of the patient and Sanger sequencing electropherogram of both patient and her parents. The image shows a de novo mutation.
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Besides, a segregation study was performed and showed a negative result in the parents, demonstrating that the patient's variant was de novo (Figure 2).