Pfeiffer Syndrome in a Pregnant Woman Caused by an FGFR2 Gene Mutation: A Case Report

This article reports the case of a pregnant woman with Pfeiffer Syndrome caused by a variation in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. The patient had previously naturally conceived and given birth to a daughter with acrocephalosyndactyly. During a subsequent natural pregnancy, amniocentesis was performed. Family-based whole-exome sequencing identified a heterozygous mutation c.940-2A>C in the FGFR2 gene located on chromosome 10q26.13 in the pregnant woman. The fetus was wild-type at this locus. After genetic counseling, the woman chose to continue the pregnancy. A detailed Level III fetal structural screening conducted at another hospital showed no abnormalities. She subsequently gave birth to a healthy son.