CareLit · DOI-Nachweis · Ultraschall in der Medizin - European Journal of Ultrasound
Prenatal diagnosis of Wolf-Hirschhorn-syndrome (4p-)
DOI 10.1055/s-2008-1080795
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Autor:innenEJ Visca, P Miny, A Kang, C Voekt, S Tercanli, W Holzgreve
ZeitschriftUltraschall in der Medizin - European Journal of Ultrasound
Ausgabe05/2008
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Introduction: Prenatal diagnosis of Wolf-Hirschhorn-syndrome (WHS) is complex as 4p deletion might not be recognized on standard karyotyping. Falsely euploid results are described with diagnosis depending on subsequent testing once sonographic fetal anomalies occurred. WHS may present with intrauterine growth restriction (IUGR), craniofacial anomalies, cardiac, renal, and skeletal malformations. Prognosis is dismal…
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Zitierempfehlung
EJ Visca, P Miny, A Kang, C Voekt, S Tercanli, W Holzgreve (2008) Prenatal diagnosis of Wolf-Hirschhorn-syndrome (4p-). Ultraschall in der Medizin - European Journal of Ultrasound (05). https://doi.org/10.1055/s-2008-1080795
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