Prenatal diagnosis of Beckwith-Wiedemann syndrome by two- and three-dimensional ultrasonography

Prenatal diagnosis of Beckwith-Wiedemann syndrome by two- and three-dimensional ultrasonography* Diagnóstico pré-natal da síndrome de Beckwith-Wiedemann pela ultrassonografia bidimensional e tridimensional

agnosis. Three-dimensional ultrasonography (3DUS) in rendering mode allows a better assessment of the fetal surface, contributing to a more comprehensive understanding of the malformation by the parents. Only one report of prenatal diagnosis of BWS by 3DUS is found in the literature. The authors present a case of BWS diagnosed by 2DUS at the 28th gestational week, and emphasize the main finding...

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes. The possibility to use fresh (CVF) and cultured (CVC) chorionic villi has never been investigated. To verify whether CVF and CVC are reliable sources of DNA to study fetal methylation, we u...

[Beckwith-Wiedemann syndrome].

Beckwith-Wiedemann syndrome.

some llp15.3-.pter and monosomic for chromosome 5p15.3-.pter (karyotype 46,XY,der(5)t(5;ll)(pl5.3;pl5.3)pat). Paternally derived duplications of llpl5.5 are associated with Beckwith-Wiedemann syndrome (BWS) and both family members trisomic for llpl5.5 had prenatal overgrowth (birth weights >97th centile), macroglossia, coarse facial features, and broad hands. We review the clinical features of ...

A case report of beckwith-wiedemann syndrome

beckwith and wiedemann for the first time described a syndrome characterised by macroglossia,macrosomia and omphalocele.nowadays inaddition to the above symptoms,visceromegaly,mild microcephaly,facial nevus flammeus,earlobe cerase,persistent neonatal hypoglycemia,and polycythemia are also considered various manifestations of Beckwith-Wiedemann syndrome. This study report a female neonate with ...