Updated: 6/16/2021

Beckwith-Wiedemann Syndrome

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  • summary
    • Beckwith-Wiedemann Syndrome is a congenital condition caused by a mutation in chromosome 11p15.5 that presents with hemihypertrophy, macroglossia, abdominal wall defects, and hypoglycemia. 
    • Diagnosis is made using physical examination and genetic testing. 
    • Treatment involves a multidisciplinary approach to address orthopedic manifestations, abdominal abnormalities, and overgrowth.
  • Epidemiology
    • Incidence
      • 1 in 13,700 births
    • Demographics
      • 1:1 male to female
  • Etiology
    • 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
    • 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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(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

QID: 6089
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bone age of the left wrist.

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MRI of the spine.

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MRI of the brain.

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renal and abdominal ultrasonography.

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hip ultrasonography.

5%

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