On a growth curve, this infant is >90% percentile. Note the tongue and the ears. 4% of infants with this syndrome are at increased risk of malignancy, including Wilms tumor, neuroblastoma, hepatoblastoma, and gonadoblastoma. 80% have abdominal wall defects. 59% have renal abnormalities.Challenge: What's the syndrome?
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Beckwith-Wiedemann syndrome
beckwith wiedham syndrome (totally mispelled)
wow! you two are amazing! I don't think I've ever learned about B-W syndrome. I'm not even sure how it ended up on my list of cases.
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Facies
Beckwith-Wiedemann Syndrome has characteristic macroglossia, growth greater than 90th percentile, abdominal wall defects, ear creases or pits, renal abnormalities, and hemihypertrophy. Infants may have transient or prolonged hypoglycemia from hyperinsulinemia.
Sources: UpToDate; www.endotext.org.
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