In patients with the Antley-Bixler syndrome, characterized by craniosynostosis, brachycephaly, midface hypoplasia, and choanal atresia and/or stenosis, variants have been found not only in FGFR2, but also in the gene encoding cytochrome p450 oxidoreductase (POR) (116–119). The gene discussed is POR; the disease is craniosynostosis.