Updated: 10/11/2016

Beckwith-Wiedemann Syndrome

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Introduction
  • An overgrowth syndrome characterized by spectrum of clinical manisfestations, highlighted by:
    • major criteria:
      • overgrowth 
      • abdominal wall defects, incl. omphalocele
      • macroglossia or large tongue
    • minor criteria
      • hemihypertrophy (10-20%)
      • ear anomalies
      • neonatal hypoglycemia
      • nephromegaly
  • Epidemiology
    • incidence
      • 1 in 13,700 births
    • demographics
      • 1:1 male to female
  • Pathophysiology
    • pancreatic islet cell hypertrophy causes repeated bouts of infantile hypoglycemia resulting in spasticity
  • Genetics
    • inheritance
      • sporadic in 85% of cases
      • autosomal dominant with incomplete penetrance in remaining 15%
    • mutation
      • chromosome 11p15.5
  • Associated conditions
    • orthopaedic manifestations
      • hemihypertrophy 
    • medical conditions
      • patients have a predisposition for embryonal tumors, i.e. Wilm's tumor, and should be screened with US every 3-6 months until 5-8 years of age
Presentation
  • Physical exam
    • macroglossia  
    • midface hypoplasia
    • infraorbital creases
    • anterior linear ear lobe creases
    • visceromegaly
    • hemihypertrophy 
Imaging
  • Radiographs
    • recommended views
      • comparison view of affected limb with contralateral limb
Treatment
  • Operative
    • epiphysiodesis
      • indications
        • growth arrest of the affected limb
 

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Questions (1)

(SAE07PE.29) A 2-year-old child is being evaluated for limb-length and girth discrepancy. As a newborn, the patient was large for gestational age and had hypoglycemia. Current examination shows enlargement of the entire right side of the body, including the right lower extremity and foot. The skin shows no abnormal markings, and the neurologic examination is normal. The spine appears normal. Radiographs confirm a 2-cm discrepancy in the lengths of the lower extremities. Additional imaging studies should include Review Topic

QID: 6089
1

bone age of the left wrist.

2%

(1/47)

2

MRI of the spine.

6%

(3/47)

3

MRI of the brain.

0%

(0/47)

4

renal and abdominal ultrasonography.

77%

(36/47)

5

hip ultrasonography.

4%

(2/47)

ML 1

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