Marshall-Smith syndrome and septo-optic dysplasia: an unreported association.
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.
Travan
Laura
L
Neonatal Intensive Care Unit, Institute for Child Health Burlo Garofolo, Trieste, Italy. ltravan@yahoo.it
Oretti
Chiara
C
Zennaro
Floriana
F
Demarini
Sergio
S
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