Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Katge, Farhin Ali, Rusawat, Bhavesh Dahyabhai, Shivasharan, Pooja Ravindra, Patil, Devendra Pandurang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shiraz University of Medical Sciences 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006835/
https://www.ncbi.nlm.nih.gov/pubmed/27602401
Descripción
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.