Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

[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 ...

Beckwith-Wiedemann Syndrome

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 ...

Beckwith-wiedemann Syndrome and Hemihyperplasia

BeckwithWiedemann syndrome, characterized by the triad of omphalocele, macroglossia, and gigantism, has a population incidence estimated at 1/13,700. This is likely an underestimate, because individuals with milder phenotypes may not be diagnosed. Some cases of isolated hemihyperplasia may, in fact, represent BeckwithWiedemann syndrome with reduced expressivity. Additional clinical features of ...