In 1993, Borrone et al. described two Italian brothers affected by a syndrome of severe acne, mitral valve prolapse, dysmorphic facies, and Scheuermann-like changes of the vertebral column. Since then, no further cases have been reported. Here, we report on two Dutch brothers with many features suggestive of this rare syndrome.
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| http://dx.doi.org/10.1002/ajmg.a.31719 | DOI Listing |
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