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

J Craniofac Surg

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

Published: February 2024

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.

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http://dx.doi.org/10.1097/SCS.0000000000010030DOI Listing

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