Apert-Syndrome -: prenatal diagnosis and postnatal course.: Case report

Apert syndrome is one of the craniosynostosis syndromes and has a prevalence of 1 : 65,000 liveborns. In most cases it is caused by a distinct mutation of the fgfr2 gene. The diagnosis can be suggested by antenatal ultrasound findings, and molecular sequencing of the gene can then allow a definite diagnosis as soon as in the first trimester. A case report is presented to illustrate the typical antenatal ultrasound findings, prenatal molecular genetical diagnosis and postnatal course. Definite knowledge of the diagnosis before the birth allows intensive counselling of the parents and - as in this case - positive bonding in spite of multidisciplinary therapy during the first years of life.