EP218: A novel FGFR2 variant in a family with a spectrum of anterior segment anomalies

Abstract

Pathogenic variants in fibroblast growth factor receptor 2 (FGFR2) have been associated with a wide spectrum of craniofacial anomalies, ranging from severe multiple craniosynostoses to unilateral coronal craniosynostosis. The degree of craniosynostosis and the presence or absence of additional clinical features involving the hands and feet may establish diagnoses of either Crouzon, Pfieffer, or Apert syndromes. However, phenotypic overlap is common. Ocular anomalies in FGRF2-related craniosynostosis including exophthalmos, strabismus due to extraocular muscle anomalies or orbit malformation, and anisometropia have been well described.