title: Marshall-Smith syndrome and septo-optic dysplasia: an unreported association.
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.
authors.affiliation: Neonatal Intensive Care Unit, Institute for Child Health Burlo Garofolo, Trieste, Italy. ltravan@yahoo.it
authors.forename: Laura
authors.initials: L
authors.lastname: Travan
authors.forename: Chiara
authors.initials: C
authors.lastname: Oretti
authors.forename: Floriana
authors.initials: F
authors.lastname: Zennaro
authors.forename: Sergio
authors.initials: S
authors.lastname: Demarini
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography; D025962:Septo-Optic Dysplasia / Q000473:pathology*; D013577:Syndrome