FGFR3 and Crouzon disease: We report a patient with a clinical presentation that overlaps with Pfeiffer syndrome type 3 with a de novo FGFR3 NM_000142.4:c.1428C>A change resulting in a missense p.Ala391Glu variant associated with Crouzon syndrome with acanthosis nigricans (CAN) (OMIM 612247).