Background: The birth prevalence of Apert syndrome is estimated at 1:64,500 and accounts for about 4.5 % of all craniosynostosis with a male/female ratio equal to 1:1. It is associated to allelic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Majority cases are sporadic. Prenatal ultrasound diagnosis is based on the detection of abnormal cranial shape, midfacial hypoplasia and bilateral syndactyly of hands and feet, hypertelorism, and exorbitism. Other abnormalities includes central nervous system anomalies, congenital heart diseases, cleft palate, and urogenital diseases.
Case report: A 37-year-old Caucasian woman, gravida 2, para 1, was referred to our center of Prenatal Diagnosis for routine ultrasound at 21 weeks of gestation. We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, hypertelorism, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for Apert syndrome. Magnetic resonance excluded agenesis of corpus callosum and confirmed bilateral mild ventriculomegaly. A follow-up ultrasound, performed at 23 weeks, confirmed the anomalies showed in the previous scan. An amniocentesis was performed. The results showed a normal male karyotype, while the molecular genetic test confirmed a mutation in FGFR2 gene. Fetus macroscopic analysis showed compatible features.
Conclusions: Our case underlines the complementary role of ultrasound and magnetic resonance imaging in the early prenatal diagnosis of Apert syndrome.