Apert syndrome - prenatal findings


After prenatal counseling, the parents agreed to terminate the pregnancy. Postmortem external autopsy confirmed turribrachycephaly, low set ears, hypertelorism, as well as complex hand and feet syndactyly.

This is a case of a sporadic acrocephalosyndactyly, a spectrum of syndromic craniosynostoses which encompasses Apert syndrome, Crouzon syndrome, Saethre-Chotzen syndrome and Pfeiffer syndrome.

Thanks to Dr Fabrice Cuillier.