Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

Key Points

• To identify and characterize a novel FGFR2 variant associated with Beare-Stevenson Cutis Gyrata Syndrome diagnosed prenatally.
• Prenatal genetic testing
• Clinical evaluation of phenotypic features
• Molecular analysis of the FGFR2 gene
• Identification of a new FGFR2 variant
• Documentation of the associated clinical features
• Discussion of implications for prenatal counseling