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.