These reports point to a role for NR2F1 in the regulation of neural crest development, face cartilage, and more broadly, bone ossification, which could explain not only facial dysmorphic features, but also bone age abnormalities, reported in a BBSOAS patient [35], and short stature [38]. The gene discussed is NR2F1; the disease is Bosch-Boonstra-Schaaf optic atrophy syndrome.