Paul Dimitri and Meena Balasubramanian and colleagues report a study that describes the common facial dysmorphism consisting of bilateral low-set ears, depressed nasal bridge with overhanging columella, elongated, upslanted palpebral fissures, persistent long philtrum with a thin vermilion border of the upper lip in a cohort of seven patients with GLIS3 mutations. They reported the emergence of a distinct, probably recognizable facial gestalt in this group which evolves with age.
Dimitri, Paul et al. American Journal of Medical Genetics Part A.
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Johns Hopkins Medicine, All Children's Hospital