Sarah Kilcoyne, Paula Scully, Sarah Overton, Sally Brockbank, Gregory P L Thomas, Rosanna C Ching, Jayaratnam Jayamohan, James D Ramsden, Jon Jones, Andrew O M Wilkie, David Johnson
OBJECTIVE: Crouzon syndrome with acanthosis nigricans (CAN) is caused by the specific mutation c.1172C>A (p.Ala391Glu) in the fibroblast growth factor receptor 3 gene, and has an estimated prevalence of 1:1,000,000 births. Most cases occur de novo; however, autosomal dominant inheritance may occur. The clinical presentation typically includes craniosynostosis, midface and maxillary hypoplasia, choanal atresia/stenosis, hydrocephalus, and intracranial hypertension. Patients develop acanthosis nigricans, a hyperkeratotic skin disorder...
March 20, 2024: Journal of Craniofacial Surgery