Marshall–Smith syndrome and septo-optic dysplasia: An unreported association

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  • How to cite this article: Travan L, Oretti C, Zennaro F, Demarini S. 2008. Marshall–Smith syndrome and septo-optic dysplasia: An unreported association. Am J Med Genet Part A 146A:2138–2140.

Abstract

Marshall–Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. We describe a female newborn who, in addition to demonstrating many of the well described features of Marshall–Smith syndrome, had septo-optic dysplasia. © 2008 Wiley-Liss, Inc.

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