Apert syndrome - prenatal findings

Discussion:

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.

Loading...