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Figure 1 | Genome Medicine

Figure 1

From: De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Figure 1

Clinical presentation of four subjects. (A, B) Subject 2 aged (A) 1 month and (B) 38.5 months. Note the high forehead, low-set ears, thin arched eyebrows and anteverted nares. (C) Subject 3, aged 5 years, Note high and broad forehead, periorbital fullness, and anteverted nares. (D-F) Subject 4, aged 41.5 months, showing prominent tall forehead, arched eyebrows with subtle synophrys and periorbital fullness, prominent columella with hypoplastic alae nasi, thin upper lip, and borderline low-set ears. Note that none of the patients has trigonocephaly or prominent metopic ridge, as seen in Boehring-Opitz syndrome. Images were not available for subject 1.

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