Antenatal diagnosis of Seckel Syndrome a rare case report

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

Bibliographische Detailangaben
Veröffentlicht in:Journal of prenatal medicine. - 2007. - 8(2014), 3-4 vom: 05. Apr., Seite 70-2
1. Verfasser: Vascone, Carmine (VerfasserIn)
Weitere Verfasser: 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
Format: Aufsatz
Sprache:English
Veröffentlicht: 2014
Zugriff auf das übergeordnete Werk:Journal of prenatal medicine
Schlagworte:Case Reports Seckel Syndrome bird-headed appearance dwarfism microcephaly prenatal diagnosis ultrasound
Beschreibung
Zusammenfassung: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
Beschreibung:Date Completed 12.08.2015
Date Revised 29.09.2020
published: Print
Citation Status PubMed-not-MEDLINE
ISSN:1971-3282