Beckwidth-Wiedemann Syndrome Flashcards
1
Q
What are the classic ultrasound findings in fetuses with BWS?
A
- Macroglossia
- Polyhydramnios
- Organomegaly
- Omphalocele/umbilical hernia
- Fetal macrosomia
- Severe neonatal hypoglycemia
- Wilms tumor
2
Q
What are the genetics of BWS?
A
Chromosome 11. Problems. with genomic imprinting causing paternal uniparental disomy
3
Q
What is the prognosis for the fetus with BWS?
A
- Preterm delivery
- Wilms tumor
- Hepatoblastoma
- Breathing difficulty due to macroglossia
- Life expectancy is normal
4
Q
If you suspect a fetus of having BWS, what testing will you perform?
A
CMA
5
Q
What is the classic phenotype of BWS?
A
- Macroglossia
- Macrosomia
- Omphalocele
- Polyhydramnios
