Literature DB >> 2038600

Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome.

D L Viljoen1, Z Jaquire, D L Woods.   

Abstract

A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neonatal complications, such as hypoglycaemic episodes, were prevented.

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Year:  1991        PMID： 2038600     DOI： 10.1002/pd.1970110306

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  3 in total

1.  A new lethal syndrome of exomphalos, short limbs, and macrogonadism.

Authors:  L Faivre; A L Delezoide; F Narcy; F Razavi; R Bouvier; V Cormier-Daire; M L Briard; S Lyonnet; M Vekemans; A Munnich; M Le Merrer
Journal:  J Med Genet       Date:  1999-02       Impact factor: 6.318

2.  Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.

Authors:  F R Grati; L Turolla; P D'Ajello; A Ruggeri; M Miozzo; G Bracalente; D Baldo; L Laurino; R Boldorini; E Frate; N Surico; L Larizza; F Maggi; G Simoni
Journal:  J Med Genet       Date:  2007-01-26       Impact factor: 6.318

3.  Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

Authors:  D Viljoen; R Ramesar
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318
  3 in total

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