BECKWITH-WIEDEMANN SYNDROME - DIFFICULTIES WITH PRENATAL-DIAGNOSIS

Citation
T. Nowotny et al., BECKWITH-WIEDEMANN SYNDROME - DIFFICULTIES WITH PRENATAL-DIAGNOSIS, Fetal diagnosis and therapy, 9(4), 1994, pp. 256-260
Citations number
NO
Categorie Soggetti
Obsetric & Gynecology
Journal title
ISSN journal
10153837
Volume
9
Issue
4
Year of publication
1994
Pages
256 - 260
Database
ISI
SICI code
1015-3837(1994)9:4<256:BS-DWP>2.0.ZU;2-J
Abstract
Beckwith-Wiedemann syndrome (BWS), though a well-delineated clinical a nd morphological entity, can be difficult to diagnose by prenatal ultr asound examination when incomplete forms occur. We present a case with sonographic results including hydronephrosis, cardiomegalia, hepatome galia, macroglossia, and prominent forehead. No abdominal wall defect was detected. Karyotype was normal. In spite of intensive prenatal dia gnostics, BWS could not be diagnosed definitely until birth.