Antenatal diagnosis of Seckel Syndrome: a rare case report.

Abstract

Introduction: Seckel Syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and the absence of visceral malformations.

Case report: we observed sonographic features of a Seckel Syndrome, in a patient during the 24th week of pregnancy. Her family history was negative for malformation and chromosomal disorders. The diagnosis was later confirmed by molecular tests.

Conclusion: diagnosis should be made only by expert operators. Karyotype analysis is essential to confirm the diagnosis.