Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome known as exomphalos-macroglossia - gigantism syndrome. Prognosis is good, prenatal diagnosis is important for pregnancy management but might be difficult due to clinical overlap with other syndromes. Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly and foetal ascites. Authors present a case of prenatally diagnosed BWS with severe ascites as first antenatal finding and lethal course, signs more typical of Perlman syndrome. This combination of clinical signs has not been published yet and may contribute to specification of possible prenatal manifestation of BWS.
2nd Department of Obstetrics and Gynaecology, University Hospital Bratislava , Bratislava , Slovakia.
Vladimír
V
Ferianec
Michaela
M
Bartova
D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000150:complications*; D005260:Female; D005320:Fetal Macrosomia / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D050497:Stillbirth; D009396:Wilms Tumor / Q000150:complications*
Beckwith–Wiedemann syndrome; Perlman syndrome; foetal ascites; macroglossia; macrosomia