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Marshall-Smith syndrome and septo-optic dysplasia: an unreported association
Laura Travan1, Chiara Oretti, Floriana Zennaro
1Neonatal Intensive Care Unit, Institute for Child Health Burlo Garofolo, Trieste, Italy. ltravan@yahoo.it
American Journal of Medical Genetics. Part A
|July 16, 2008
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.
