| Cornelia de Lange syndrome: description of the orofacial features and case report. | |
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MedLine Citation:
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PMID: 19886366 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cornelia de Lange Syndrome (CdLS) is a very rare syndrome characterised by multiple congenital anomaly affecting various organs and severe mental retardation. Incidence has been reported to be 1: 10.000-20.000 among the general population, with no racial predilection. The aetiology is still unknown but researchers, in 2004, discovered a mutation of the NIPBL gene located on chromosome 5 which is considered to be responsible of the disease. The main clinical features of the syndrome regard distinctive facial features, severe growth retardation, developmental and mental delay, hirsutism, structural limb abnormalities. The authors describe the main features of the syndrome focusing on oral and facial malformations and report a case of a three years old patient with CdLS. |
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Authors:
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M G Guadagni; N Cetrullo; G Piana |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: European journal of paediatric dentistry : official journal of European Academy of Paediatric Dentistry Volume: 9 ISSN: 1591-996X ISO Abbreviation: Eur J Paediatr Dent Publication Date: 2008 Dec |
Date Detail:
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Created Date: 2009-11-05 Completed Date: 2009-12-09 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101121881 Medline TA: Eur J Paediatr Dent Country: Italy |
Other Details:
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Languages: eng Pagination: 9-13 Citation Subset: D; IM |
Affiliation:
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Special Care Patient Unit, Department of Dental Sciences, Alma Mater Studiorum, University of Bologna, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Craniofacial Abnormalities / pathology* De Lange Syndrome / pathology* Female Humans Malocclusion, Angle Class III / pathology Micrognathism / pathology Open Bite / pathology Palate / abnormalities Tongue / abnormalities Tooth Abnormalities / pathology* |
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