Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the
triad of short stature, microtia and absent or small patellae. We report on a patient with MGS
secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES).
Patients with MGS caused by mutations in CDC45 display a distinct phenotype
characterized by craniosynostosis and anorectal malformation. Our patient had
craniosynostosis, anorectal malformation and short stature, but did not have the microtia or …