Beckwith-Wiedemann syndrome verus congenital hypothyroidism - USMLE Forums
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Old 07-03-2011
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Kids Beckwith-Wiedemann syndrome verus congenital hypothyroidism

Beckwith-Wiedemann syndrome
  • Macrosomia, macroglossia, visceromeglay, omphalocele, hypoglycemia, and hyperinsulinemia. Additionally features include prominent eyes, prominent occiput, ear creases, and hyperplasia of the pancreas.
  • The cause is unknown, but it can be associated with duplication of chromosome 11p. This region contains the gene encoding for IGF-2, which may explain the macrosomia.
  • Since the hypoglycemia can be severe and intractableàsometimes subtotal pancreatectomy may be needed.
  • Pts are at increased risk of neoplasms such as wilm’s tumor, hepatoblastoma, and gonadoblastoma.

Vs. congenital hypothyroidism:
  • it can also present with hypotonia and enlarged tongue, but it has an umbilical hernia (instead of omphalocele).
  • Plus these pts have a larger head circumference (which is normal in beckwith).
  • There is no hypoglycemia or hyperinsulinemia.

Vs. maternal diabetes:
  • These infants do not present with dismorphic features such as omphalocele, macroglossia, and prominent occiput.
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The above post was thanked by:
gokulramani (01-16-2016)


Pediatrics-, Syndromes-Acronyms

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