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Langer-Giedion Syndrome: a Rare Case Report
Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. It is characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features. The characteristic appearance of individuals includes sparse...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Shiraz University of Medical Sciences
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006835/ https://www.ncbi.nlm.nih.gov/pubmed/27602401 |
Sumario: | Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. It is characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features. The characteristic appearance of individuals includes sparse scalp hair, rounded nose, prominent philtral area and thin upper lip. Some cases with this condition have loose skin in childhood which typically resolves with age. Oral and dental manifestations include micrognathia, retrognathia, hypodontia, and malocclusion based on cephalometric analysis. This report presents a case of Langer-Giedion syndrome in a 10-year-old child. |
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