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Síndrome de Cornelia de Lange e implicações orofaciais: revisão narrativa
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A síndrome de Cornelia de Lange é uma doença rara, com uma variabilidade fenotípica muito ampla e geneticamente heterogénea que afeta múltiplos órgãos e sistemas, tendo até agora sido identificadas mutações patogénicas em cinco genes: NIPBL, SMC1A, SMC3, RAD21 e HDAC8. O diagnóstico da maioria das crianças é geralmente óbvio ao nascimento. A braquicefalia e sinofris são características presentes em todas as crianças com síndrome de Cornelia de Lange, sendo também frequente a presença de atraso mental. Outras manifestações frequentes são ainda o excesso de pelos faciais e hirsutismo generalizado, pestanas das pálpebras superior e inferior encaracoladas e invulgarmente longas. Dentes pequenos e espaçados, com erupção atrasada, anodontia parcial, lábio superior fino, cantos da boca deprimidos e palato ocasionalmente arqueado ou fissurado, também podem estar presentes. A estratégia multidisciplinar é a chave para o sucesso do tratamento. É importante fornecer à família informações sobre a síndrome, o que pode ajudar os pais a lidar emocionalmente com a situação e cooperar no tratamento da criança. Este trabalho consiste numa revisão narrativa sobre a síndrome de Cornelia de Lange, abordando especificamente as suas manifestações orofaciais e o impacto dessas alterações na medicina dentária.
Cornelia de Lange syndrome is a rare disease with a very wide and genetically heterogeneous phenotypic variability that affects multiple organs and systems. So far, pathogenic mutations have been identified in five genes: NIPBL, SMC1A, SMC3, RAD21 and HDAC8. The diagnosis of most children is usually obvious at birth. Brachycephaly and synophry are characteristics present in all children with Cornelia de Lange syndrome, being also common the presence of mental retardation. Frequent manifestations include excess facial hair and generalized hirsutism, unusually long curly upper and lower eyelashes. Small, spaced teeth with delayed eruption, partial anodontia, thin upper lip, depressed corners of the mouth, and occasionally arched or cleft palate may also be present. The multidisciplinary strategy is the key to treatment success. It is important to provide the family with information about the syndrome, which can help parents to cope emotionally with the situation and cooperate in the treatment of their child. This work consists of a narrative review on Cornelia de Lange syndrome, specifically addressing its orofacial manifestations and the impact of these changes on dentistry.
Cornelia de Lange syndrome is a rare disease with a very wide and genetically heterogeneous phenotypic variability that affects multiple organs and systems. So far, pathogenic mutations have been identified in five genes: NIPBL, SMC1A, SMC3, RAD21 and HDAC8. The diagnosis of most children is usually obvious at birth. Brachycephaly and synophry are characteristics present in all children with Cornelia de Lange syndrome, being also common the presence of mental retardation. Frequent manifestations include excess facial hair and generalized hirsutism, unusually long curly upper and lower eyelashes. Small, spaced teeth with delayed eruption, partial anodontia, thin upper lip, depressed corners of the mouth, and occasionally arched or cleft palate may also be present. The multidisciplinary strategy is the key to treatment success. It is important to provide the family with information about the syndrome, which can help parents to cope emotionally with the situation and cooperate in the treatment of their child. This work consists of a narrative review on Cornelia de Lange syndrome, specifically addressing its orofacial manifestations and the impact of these changes on dentistry.
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Síndrome de Cornelia de Lange Brachmann de Lange Manifestações dentárias Cornelia de Lange syndrome Brachmann de Lange Dental manifestations