Wednesday, August 12, 2009

Facies

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?

Image shown under fair use.
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3 comments:

  1. AlexAugust 12, 2009 at 4:51 PM

    Beckwith-Wiedemann syndrome

    ReplyDelete
  2. StephAugust 12, 2009 at 9:39 PM

    beckwith wiedham syndrome (totally mispelled)

    ReplyDelete
  3. CraigAugust 14, 2009 at 7:04 PM

    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.
    -
    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.

    ReplyDelete

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