Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report
Walter Annicchiarico-LópezLeidy Ximena Peña-PardoJezid Enrique Miranda-QuinteroPublished in: Revista colombiana de obstetricia y ginecologia (2023)
Complete fetal exome sequencing was a key factor in identifying the MYH3 gene mutation and confirmed that the deformities seen on ultrasound were associated with type 2A distal arthrogryposis. It is important to perform complete fetal exome sequencing in cases of joint malformations seen on prenatal ultrasound.