Novel heterozygous mutation in MYH3 causes contractures, pterygia, and spondylocarpostarsal fusion syndrome 1: A case report

Prenatal ultrasound and fetal magnetic resonance imaging can reliably detect characteristic manifestations including scoliosis, joint developmental abnormalities, and clubfoot. Thus, regular prenatal surveillance plays a critical role in early disease identification. For suspected cases, genetic counseling and diagnostic testing enable informed parental decision-making regarding management of affected offspring and future reproductive planning.