Prenatal diagnosis of Wolf-Hirschhorn-syndrome (4p-)
EJ Visca, P Miny, A Kang, C Voekt, S Tercanli, W Holzgreve · Ultraschall in der Medizin - European Journal of Ultrasound · 2008 · Heft 05
Bibliografische Angaben
Zusammenfassung
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 due to mental retardation, neurologic deficiencies, generalized hypotonia, seizures, and increased mortality. Case report: A 25-year-old G 3 P 3 was referred at 21 weeks of gestation because of suspic…
