Prenatal ultrasound and molecular diagnosis elucidate the prognosis of Pfeiffer syndrome¹⁾

Abstract

Background: Pfeiffer syndrome (PS) is one of several related craniosynostosis and occurs in 1 out of every 100,000 births. The diagnosis has historically been based on the clinical neonatal findings of bilateral coronal craniosynostosis, midface hypoplasia, with broad thumbs and great toes. Case: A craniosynostosis suggestive of PS was identified on prenatal ultrasound at 34 + 3 weeks gestation by findings of polyhydramnios, a cloverleaf skull, ventriculomegaly, hypertelorism, marked orbital proptosis, short limbs, broad digits, and an abnormality of the spine. Prenatal molecular testing of the FGFR genes revealed an exon 10, p.Y340C mutation in the FGFR2 gene. Conclusion: PS can now be diagnosed prenatally. In our case, the specific mutation was associated with an especially severe phenotype. The ultrasonographic findings in conjunction with the molecular diagnosis allowed us to better inform the patient and medical staff about the diagnosis and prognosis.