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Updated: Apr 5, 2026
Murine Fetal Echocardiography
Published on: February 15, 2013
Antenatal diagnosis of Seckel Syndrome: a rare case report
Carmine Vascone1, Filippo Di Meglio2, Letizia Di Meglio3
1Department of Woman, Child and General and Specialistics Surgery, II University of Naples, Naples, Italy.
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.
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