Prenatal diagnosis of Apert syndrome with widely separated cranial sutures

Abstract

A 35-year-old Taiwanese woman visited us for prenatal evaluation in the 20th week of pregnancy. Both clinical observation of the mother and analysis of maternal DNA indicated a diagnosis of Apert syndrome. Sonographic examination of the fetus demonstrated findings that were consistent with this diagnosis; however, no prematurely fused cranial sutures were observed. The pregnancy was terminated after genetic counselling and fetal DNA analysis showed the same mutation as found in the mother. Autopsy of the abortus revealed the same findings as were detected by sonography; however, all cranial sutures were widely separated. These findings indicate that, in Apert syndrome, craniosynostosis and syndactyly may develop asynchronously up to 20 weeks of pregnancy.