| Autor: |
Vascone, Carmine, Di Meglio, Filippo, Di Meglio, Letizia, Turco, Luigi Carlo Lo, Vitale, Salvatore Giovanni, Cignini, Pietro, Marilli, Ilaria, Rapisarda, Agnese Maria Chiara, Valenti, Gaetano, Cianci, Stefano |
| Předmět: |
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| Zdroj: |
Journal of Prenatal Medicine; Jul-Dec2014, Vol. 8 Issue 3/4, p70-72, 3p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Supplemental Index |
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