ORAL FEATURES IN CORNELIA DE LANGE SYNDROME

[摘要] Cornelia de Lange syndrome (CdLS) is a multisystem malformation syndrome. There is wide clinical variability in this disorder. This disorder is relatively uncommon and characterised by series of malformations which includes skeletal, craniofacial, gastrointestinal and cardiac malformations. The main clinical feature includes growth retardation, limb abnormalities, mental retardation, developmental delay and facial discrepancies. Here we report Cornelia De Lange syndrome in an adult patient with characteristic limb abnormalities and distinctive oral features.

[学科分类] 基础医学

[关键词] Cornelia de Lange;facial features;limb defects;oral features