Heterozygous FGFR3 c.138G>A Mutation Presenting With Achondroplasia and Hemifacial Microsomia

Hyok Jun Kwon; Lachlan D M Farmer; Mark H Moore

doi:10.1097/SCS.0000000000010030

Heterozygous FGFR3 c.138G>A Mutation Presenting With Achondroplasia and Hemifacial Microsomia

J Craniofac Surg. 2024 Feb 16. doi: 10.1097/SCS.0000000000010030. Online ahead of print.

Authors

Hyok Jun Kwon¹, Lachlan D M Farmer, Mark H Moore

Affiliation

¹ Cleft and Craniofacial South Australia, Women's and Children's Hospital, Adelaide, South Australia, Australia.

PMID: 38363292
DOI: 10.1097/SCS.0000000000010030

Abstract

We present a case of a patient with achondroplasia, hemifacial microsomia and an fibroblast growth factor receptor3 c.138G>A mutation. An association between the 2 conditions has not been previously described, but there is biological plausibility that the etiology of the 2 conditions is linked.