Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.

Abstract

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.

• Authors: Vladimír Ferianec, Michaela Bartova
• Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians (J Matern Fetal Neonatal Med) Vol. 27 Issue 15 Pg. 1607-9 (Oct 2014) ISSN: 1476-4954 [Electronic] England
• PMID: 24215131 (Publication Type: Journal Article)

Topics

• Adult
• Beckwith-Wiedemann Syndrome (complications)
• Female
• Fetal Macrosomia (complications)
• Humans
• Infant, Newborn
• Male
• Pregnancy
• Stillbirth
• Wilms Tumor (complications)