Carmine Vascone, Filippo Di Meglio, Letizia Di Meglio, Luigi Carlo Lo Turco, Salvatore Giovanni Vitale, Pietro Cignini, Ilaria Marilli, Agnese Maria Chiara Rapisarda, Gaetano Valenti, Stefano Cianci
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Antenatal diagnosis of Seckel Syndrome: a rare case report.
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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