Publication
Cornelia de Lange Syndrome and orofacial implications
| dc.contributor.author | Cardoso, Inês Lopes | |
| dc.contributor.author | Leal, Fernanda | |
| dc.contributor.author | Silva, G. F. | |
| dc.date.accessioned | 2020-09-21T15:02:28Z | |
| dc.date.available | 2020-09-21T15:02:28Z | |
| dc.date.issued | 2020-04 | |
| dc.date.updated | 2020-06-05T11:23:26Z | |
| dc.description.abstract | Background and objective: Cornelia de Lange syndrome is a rare disease with a very wide and genetically heterogeneous phenotypic variability that affects multiple organs and systems. 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. Methods: For the bibliographic search, the following databases were used: PubMed Central (PMC), Online Knowledge Library (B-ON), Cochrane Library and Scientific Electronic Library Online (SciELO), as well as Google Scholar. The keywords used in English and Portuguese, were Cornelia de Lange syndrome, Brachmann de Lange, dental manifestations. Results: 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. Conclusion: 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. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.doi | 10.15226/jdodt.2020.001110 | pt_PT |
| dc.identifier.issn | 2372-0972 | |
| dc.identifier.slug | cv-prod-1880752 | |
| dc.identifier.uri | http://hdl.handle.net/10284/8991 | |
| dc.language.iso | eng | pt_PT |
| dc.subject | Cornelia de Lange Syndrome | pt_PT |
| dc.subject | Brachmann de Lange | pt_PT |
| dc.subject | Dental Manifestations | pt_PT |
| dc.title | Cornelia de Lange Syndrome and orofacial implications | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 8 | pt_PT |
| oaire.citation.startPage | 1 | pt_PT |
| oaire.citation.title | Journal of Dentistry, Oral Disorders and Therapy | pt_PT |
| oaire.citation.volume | 8 | pt_PT |
| person.familyName | Lopes Cardoso | |
| person.familyName | Leal | |
| person.givenName | Inês | |
| person.givenName | Fernanda | |
| person.identifier.ciencia-id | F21F-16B4-3715 | |
| person.identifier.ciencia-id | 5916-B87F-2482 | |
| person.identifier.orcid | 0000-0002-0693-9831 | |
| person.identifier.orcid | 0000-0002-0118-9007 | |
| person.identifier.rid | M-7156-2013 | |
| person.identifier.scopus-author-id | 54973754300 | |
| rcaap.cv.cienciaid | 5916-B87F-2482 | Fernanda Leal | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
| relation.isAuthorOfPublication | f39fa18f-2d23-4690-bfa2-f8ba53e40775 | |
| relation.isAuthorOfPublication | 96bca334-1af5-4482-ab12-45de60be8964 | |
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