Prenatal Diagnosis · 2004 · 13 citations · 3 references
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.
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Michael R. DeBaun, Emily Niemitz, D. Elizabeth McNeil et al. · The American Journal of Human Genetics · 2002 · 274 citations · Full text
Beckwith-wiedemann Syndrome, Somatic Variant, Mendelian Disorder +8
Prenatal diagnosis of the Beckwith‐Wiedemann syndrome
Susan Winter, Cynthia J. Curry, J. Charles Smith et al. · American Journal of Medical Genetics · 1986 · 44 citations