Ultrasound and Clinical Correlations in Apert Syndrome

Apert syndrome is classified among the craniosynostosis syndromes and is also known as acrocephalosyndactyly type I. It could be diagnosed prenatally due to the severity of the malformative picture. Craniosynostosis represents the premature fusion of one or more cranial sutures and is responsible for the abnormal shape of the fetal head, acrobrachycephaly or turribrachycephaly. Syndromic craniosynostoses most frequently involve more than one suture of the fetal head and are associated with other anomalies such as midface hypoplasia or limb malformations. Limb malformations are characterized by soft tissue and bony syndactyly of fingers and toes, occasional rhizomelic shortening and elbow ankylosis. Typical association of cranial and limb malformation could rise suspicion of such a disease even prenatally. We report the case of a primiparous 32 years-old woman, who came for a second trimester ultrasound screening evaluation in our Fetal Medicine Department. Ultrasound examination revealed the presence of head shape anomaly associated with severe syndactyly and limb deformation. These signs raised the suspicion of Apert syndrome. The malformations found during the ultrasound examination of the fetus were confirmed after delivery by the clinical evaluation. Genetic cause is linked to FGFR2 gene.