Three-dimensional computed tomography complements ultrasonography in prenatal diagnosis of Pfeiffer type 2 syndrome: a case report

Abstract

Pfeiffer syndrome－which is characterized by craniosynostosis, mid-face hypoplasia, and broad deviated thumbs－is classified into three clinical subtypes based on the severity of the phenotype. Pfeiffer syndrome type 2 is the most severe form, usually leading to death during early infancy. Therefore, an accurate diagnosis of Pfeiffer syndrome and appropriate counseling are critical. However, diagnosing Pfeiffer syndrome prenatally using ultrasonography alone is difficult because the differential diagnosis is complicated. Here, we report a case of Pfeiffer syndrome type 2 diagnosed in the second trimester using three-dimensional computed tomography complemented with ultrasonography. This report discusses the usefulness of computed tomography for the prenatal diagnosis of Pfeiffer syndrome.