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Septo-optic dysplasia: clinical spectrum
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Travis Walker
Published/Copyright:
March 1, 2012
Abstract
Septo-optic dysplasia is a rare congenital syndrome first described in 1941 by Reeves, which is diagnosed clinically by two or more features of the following classical triad: 1) optic nerve hypoplasia, 2) pituitary hormone abnormalities, and 3) midline brain defects, including agenesis of the septum pellucidum and/or corpus callosum. Our intent with this case report is to highlight the spectrum of clinical characteristics of septo-optic dysplasia and the significance of early recognition and intervention.
Received: 2010-8-5
Accepted: 2010-9-20
Published Online: 2012-03-01
Published in Print: 2012-03-01
©2012 by Walter de Gruyter Berlin Boston
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Articles in the same Issue
- Editorial
- Disability research in China: gaps and future directions
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- The use of clozapine for the treatment of schizophrenia and implications for suicide prevention
- Original Articles
- Identification of factors that influence the quality of life of adolescent cancer survivors
- Nutritional status of children with an intellectual disability
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- A screening battery for the assessment of executive functioning in young and adult individuals with intellectual disability
- Spatial and temporal statistical analysis on the Chinese handicapped population
- Coping with learning disabilities in academic institutions: experience from Israel
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- Perceived parent-child relational qualities and parental control in Chinese adolescents in Shanghai
- Conceptual and measurement model for daily life activity
- National survey 2009 on medical services for persons with intellectual disability in residential care in Israel
- Case Reports
- Pathological collecting: a case report
- Septo-optic dysplasia: clinical spectrum
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