Editors: Tornetta, Paul; Einhorn, Thomas A.; Damron, Timothy A.
Title: Oncology and Basic Science, 7th Edition
Copyright ©2008 Lippincott Williams & Wilkins
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II – Specific Bone Neoplasms and Simulators > 7 – Congenital and
Inherited Bone Conditions > 7.2 – Beckwith-Wiedemann Syndrome
II – Specific Bone Neoplasms and Simulators > 7 – Congenital and
Inherited Bone Conditions > 7.2 – Beckwith-Wiedemann Syndrome
7.2
Beckwith-Wiedemann Syndrome
Danielle A. Katz
Beckwith-Wiedemann syndrome is defined by the presence
of macroglossia, omphalocele, and visceromegaly. Typically these
children are seen by an orthopaedic surgeon for hemihypertrophy and/or
cerebral palsy. It is thought that the cerebral palsy is the result of
hypoglycemia and seizures in the neonatal period.
of macroglossia, omphalocele, and visceromegaly. Typically these
children are seen by an orthopaedic surgeon for hemihypertrophy and/or
cerebral palsy. It is thought that the cerebral palsy is the result of
hypoglycemia and seizures in the neonatal period.
Pathogenesis
Etiology
-
Mapped to a mutation at 11p15, which is
near the gene for insulin-like growth factor (11p15.5) and the gene for
Wilms tumor (11p13) -
Most mutations are sporadic.
-
Inheritance is autosomal dominant with evidence of paternal imprinting.
Epidemiology
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Affects approximately 1:14,000
-
Associations with Beckwith-Wiedemann syndrome
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Most babies are >90th percentile weight at birth.
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Most are at the 97th percentile by 1 year of age.
-
15% of babies born with an omphalocele have Beckwith-Wiedemann syndrome.
-
Pathophysiology
Leg-length discrepancy results from hemihypertrophy.
Hyperplasia of pancreatic islet cells leads to hypoglycemia, which in
the neonatal period can lead to seizures and later spasticity. There is
increased risk of tumor development, probably related to the impaired
regulation of growth (e.g., visceromegaly, macroglossia,
hemihypertrophy). Approximately 7% to 9% of patients with
Beckwith-Wiedemann syndrome develop tumors. Most common is Wilms tumor,
followed by hepatoblastoma and adrenal carcinoma. The risk of tumor
development is higher in those with hemihypertrophy (~25%).
Hyperplasia of pancreatic islet cells leads to hypoglycemia, which in
the neonatal period can lead to seizures and later spasticity. There is
increased risk of tumor development, probably related to the impaired
regulation of growth (e.g., visceromegaly, macroglossia,
hemihypertrophy). Approximately 7% to 9% of patients with
Beckwith-Wiedemann syndrome develop tumors. Most common is Wilms tumor,
followed by hepatoblastoma and adrenal carcinoma. The risk of tumor
development is higher in those with hemihypertrophy (~25%).
Diagnosis
Treatment
Nonorthopaedic Care
Primary treatment concerns are nonorthopaedic.
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Management of hypoglycemia, particularly in infancy, is crucial.
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Macroglossia can interfere with breathing and feeding, and tongue reduction surgery sometimes is performed.
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Routine abdominal ultrasounds to screen
for Wilms tumor (or other intra-abdominal tumors) are essential.
Protocols vary, but scans are typically recommended every 4 to 6 months
until the child is 6 to 8 years old.
Orthopaedic Care
-
Treatments of spasticity and leg-length discrepancy are similar to treatment of these findings in other children.
-
Epiphysiodesis is the most common surgical technique for equalizing leg lengths.
Suggested Reading
Beckwith JB. Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects 1969;V(2):188–196.
Cohen MM. Beckwith-Wiedemann syndrome: Historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 2005;8:287–304.
Herring JA, ed. Tachdjian’s Pediatric Orthopaedics, 3rd ed. Philadelphia: WB Saunders, 2002.
Weng EY, Mortier GR, Graham JM. Beckwith-Wiedemann syndrome: An update and review for the primary pediatrician. Clin Pediatr 1995;34(6):317–326.