Early detection of Emanuel syndrome: a case report.

Objectives: Emanuel syndrome is a rare inherited syndrome, a correct in utero diagnosis allows effective management for ongoing and future pregnancies. Case presentation: Here, we report a case of a complete non-mosaic trisomy 22, with several prenatal sonographic findings, that was diagnosed in utero at 15 weeks' gestation and then it was confirmed with chromosomal analysis and postmortem examination. Conclusions: Every anatomical difference should always be further investigated in order to achieve the correct diagnosis. [ABSTRACT FROM AUTHOR]