OP-07 Prenatal diagnosis of Pfeiffer Syndrome case report

Objective

Our purpose was to describe and compare the cranial and extracranial abnormalities of Pfeiffer syndrome on prenatal imaging with postmortem findings.

Case

A healty 23-year-old expectant mother, nulliparous referred to our perinatology clinic for sonographic abnormalities in 19-week gestation. The cranial examination on fetal ultrasonography; The fetal sagittal suture was narrow. Its coronal and lambdoid sutures were nearly closed (Figure 1). We recorded severe ocular proptosis and hypertelorism. The lids were everted everted which is often seen in the more severe forms of Pfeiffer syndrome. We observed pes equinovarus on feet and the broad great toe. The patient was offered the option of termination but the patient and her husband refused. The patient was admitted in 27 weeks old to the emergency department. On ultrasound examination, the fetus was mort in the uterus and taken to delivery. Postnatal fetal examination revealed cloverleaf skull, ocular proptosis, flat midface and nose, clubfeet, broad great toe (Figure 2). FGFR2 gene sequence analysis, c.1019A>G (p.Tyr340Cys) missense variant (rs1554928884 ClinVar: 449398) was detected in heterozygous form. The genetic result supports our clinical findings of Pfeiffer syndrome.

Conclusion

Pfeiffer syndrome is a rare genetic disorder with a very poor prognosis because of the many complications. Prenatal diagnosis of this syndrome remains difficult and is based on fetal ultrasonography exploring the head, face and extremities, with a molecular biology analysis.

Keywords

Cloverleaf skull, pfeiffer syndrome, prenatal diagnosis, ultrasound, proptosis

1. Bellus GA, Gaudenz K, Zackai EH, et al. 1996. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14: 174–176
2. Gómez-Gómez JL, Fernández-Alonso AM, MorenoOrtega I, Mas-Greño L, Berenguel-Martínez J, Fiol-Ruiz G. Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks’ gestation. J Obstet Gynaecol. 2013 Apr;33(3):309- 310.

	File/Dsecription
	Figure 1 The shape of the skull was turricephaly suggestive of craniosynostosis and is also called cloverleaf-shaped cranium.
	Figure 2 Cloverleaf skull, ocular proptosis, Clubfeet, broad great toe