VP32.19: A case of Apert syndrome diagnosed prenatally by means of ultrasonographic findings

The clue which helped the most with the orientation in this case, and differential diagnosis between different types of syndromes associated with craniosynosthosis, was the type of syndactyly, found in all the extremities and symmetric in both hand between 2nd, 3rd and 4th finger. Genetic counselling was given to the patient due to the suspicion of Apert syndrome based on ultrasonographic findings (particularly because of the craniosynostosis and syndactyly) and she consented for invasive diagnostic testing. Amniocentesis was performed and diagnosis was confirmed by the recognition of p.Ser252Trp missense mutation on FCFR2 gene, which is one of the most common mutations associated with Apert syndrome development. The patient decided to terminate the pregnancy after appropriate counselling.