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Beckwith-Wiedemann syndrome verus congenital hypothyroidism
- 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.