Autor: |
Marlene Pryson, Donald E. Greydanus, Helen D. Pratt |
Rok vydání: |
2016 |
Předmět: |
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Zdroj: |
Health Care for People with Intellectual and Developmental Disabilities across the Lifespan ISBN: 9783319180953 |
DOI: |
10.1007/978-3-319-18096-0_75 |
Popis: |
Nager Syndrome is a rare autosomal dominant or recessive defect also called preaxial acrofacial dysostosis due to dysfunction of development of the first and second branchial arches. Nager syndrome is due to defect of the SF3B4 gene. These individuals have a unique and rare oromandibular hypogenesis syndrome with associated limb abnormalities which can cause severe physical and psychological challenges for the life of this individual. Comprehensive medical and behavioral management is essential to maximize the potential of those with this rare syndrome. |
Databáze: |
OpenAIRE |
Externí odkaz: |
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