Unusual prenatal presentation of Beckwith-Wiedemann syndrome.
When Beckwith-Wiedemann syndrome (BWS) is detected prenatally, it is usually on the basis of macroglossia, exomphalos or enlarged kidneys. We describe a case that presented as gross hepatomegaly and a suspected enlarged pancreas at 20 weeks' gestation, with none of the usual features.
Mulik
V
V
Wessex Fetal Medicine Unit, Princess Anne Hospital, Southampton, UK.
Wellesley
D
D
Sawdy
R
R
Howe
D T
DT
D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry / Q000000981:diagnostic imaging; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D005260:Female; D005865:Gestational Age; D006529:Hepatomegaly / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D010179:Pancreas / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D010920:Placenta / Q000000981:diagnostic imaging / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal