Sotos syndrome with septo-optic dysplasia.
A 12 2/12 year-old boy was admitted to our hospital with the complaint of rapid growth. His birth and postnatal growth history, developmental retardation, physical examination and skeletal radiograms suggested Sotos syndrome. CT and MRI findings revealed septo-optic dysplasia (SOD), which is usually characterized by poor growth, together with cerebral gigantism in our case. These two entities are both rare and as far as we know this is the first patient in the literature with Sotos syndrome and SOD.
Department of Pediatrics Endocrinology, University of Dokuz Eylül, Faculty of Medicine, Izmir, Turkey.
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Büyükgebiz
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Erçal
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Böber
D000365:Age Determination by Skeleton; D061085:Agenesis of Corpus Callosum; D001827:Body Height; D002648:Child; D006130:Growth Disorders / Q000209:etiology*; D006801:Humans; D008607:Intellectual Disability; D008279:Magnetic Resonance Imaging; D008297:Male; D009900:Optic Nerve / Q000473:pathology*; D012688:Septum Pellucidum / Q000002:abnormalities*; D013577:Syndrome; D014057:Tomography, X-Ray Computed