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. Author manuscript; available in PMC: 2012 Sep 1.
Published in final edited form as: Am J Med Genet A. 2011 Aug 10;155(9):2263–2268. doi: 10.1002/ajmg.a.34150

Figure 3.

Figure 3

A: Photo of Patient 2 on the left, and her unaffected twin brother on the right, as neonates. Note the patient’s prominent lips and protruding tongue.

B: Patient 2, shortly before her death at age 2 years. Note the cachectic appearance, sparse hair, coarse facial features with prominent mouth and tongue, and the hand position suggestive of ulnar deviation of the fingers.