Beckwith-Wiedemann Syndrome

Question 1

How is Beckwith-Wiedemann Syndrome inherited?

Answer 1

Sporadic in 85% due to deregulation of imprinted genes within chromosome 11

Question 2

What are 3 classic features of Beckwith-Wiedemann?

Answer 2

1. Omphalocele
2. Macroglossia
3. Macrosomia

Question 3

Name 5 facial features of Beckwith-Wiedemann

Answer 3

1. Midface hypoplasia
2. Infraorbital creases
3. Macroglossia
4. Anterior linear earlobe creases
5. Posterior helical ear pits
6. Facial nevus flammeus (port wine stain)

Question 4

Name 1 endocrine feature Beckwith Wiedemann neonates commonly have, and why it occurs.

Answer 4

1. Hypoglycemia due to hyperinsulinemia from pancreatic B cell hyperplasia

Question 5

Name 5 overgrowth features seen in Beckwith-Wiedemann

Answer 5

1. Cytomegaly of the fetal adrenal cortex (pathognomonic)
2. Macrosomia (ht/wt>97%)
3. Hemihyperplasia: asymmetric overgrowth of one or more regions of the body
4. Advanced bone age
5. Visceromegaly involving one or more intra-abdo organs

Question 6

Name 3 renal anomalies associated with Beckwith Wiedemann

Answer 6

1. Nephromegaly
2. Nephrocalcinosis
3. Later development of medullary sponge kidney

Question 7

True or false, BW can be associated with cardiomyopathy?

Answer 7

True!

Question 8

Name 4 tumours children with BWS are at increased risk for.

Answer 8

1. Wilm’s tumour
2. Hepatoblastoma
3. Neuroblastoma
4. Rhabdomyosarcoma in childhood

Question 9

How often should abdominal US screening be completed in children with BWS?

Answer 9

q3months from birth to age 8 (r/o hepatoblastoma)

Question 10

What blood test do we use to screen for hepatoblastoma? How often is it done?

Answer 10

1. AFP

2. Do it every 2-3months in the first 4 yrs

Question 11

How often should physical examination with abdominal palpation be done for children with BWS?

Answer 11

Every 6 mos