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

Laura Travan, Chiara Oretti, Floriana Zennaro, Sergio Demarini

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)2138-2140
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number16
DOIs
Publication statusPublished - Aug 15 2008

Keywords

  • Marshall-Smith syndrome
  • Septo-optic dysplasia

ASJC Scopus subject areas

  • Genetics(clinical)

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