Cleft palate in Williams syndrome
Williams-Beuren syndrome (WBS) is a genomic neurodevelopmental disorder, estimated to occur in approximately 1 in 10,000 persons. It is caused by a deletion of the "elastin" gene on chromosome 7q11.23 and was described officially in 1961 by Williams, Barrat-Boyes, and Lowe. Cleft palate is...
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| Veröffentlicht in: | Annals of maxillofacial surgery 2013-01, Vol.3 (1), p.84-86 |
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| container_title | Annals of maxillofacial surgery |
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| creator | Domenico, Scopelliti Orlando, Cipriani Graziana, Fatone Flavia Papi, Piero Giulia, Amodeo |
| description | Williams-Beuren syndrome (WBS) is a genomic neurodevelopmental disorder, estimated to occur in approximately 1 in 10,000 persons. It is caused by a deletion of the "elastin" gene on chromosome 7q11.23 and was described officially in 1961 by Williams, Barrat-Boyes, and Lowe. Cleft palate is not considered in the medical literature as a part of the multisystem disorders of the Williams syndrome but it was yet described. We present our experience of a patient who presents cleft palate among other congenital malformations. |
| doi_str_mv | 10.4103/2231-0746.110071 |
| format | Article |
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It is caused by a deletion of the "elastin" gene on chromosome 7q11.23 and was described officially in 1961 by Williams, Barrat-Boyes, and Lowe. Cleft palate is not considered in the medical literature as a part of the multisystem disorders of the Williams syndrome but it was yet described. We present our experience of a patient who presents cleft palate among other congenital malformations.</description><identifier>ISSN: 2231-0746</identifier><identifier>EISSN: 2249-3816</identifier><identifier>DOI: 10.4103/2231-0746.110071</identifier><identifier>PMID: 23662266</identifier><language>eng</language><publisher>India: Medknow Publications</publisher><subject>Care and treatment ; Case Report ; Case studies ; Cleft palate ; Diagnosis ; Patient outcomes ; Risk factors ; Williams syndrome</subject><ispartof>Annals of maxillofacial surgery, 2013-01, Vol.3 (1), p.84-86</ispartof><rights>COPYRIGHT 2013 Medknow Publications and Media Pvt. 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We present our experience of a patient who presents cleft palate among other congenital malformations.</description><subject>Care and treatment</subject><subject>Case Report</subject><subject>Case studies</subject><subject>Cleft palate</subject><subject>Diagnosis</subject><subject>Patient outcomes</subject><subject>Risk factors</subject><subject>Williams syndrome</subject><issn>2231-0746</issn><issn>2249-3816</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><recordid>eNpVkd1rwjAUxcPYmOJ839NwDPZWl68m7ctAZF8gjIGwx5CmqWamjTR14n-_dFXRvCRwfvfc3HMBuEVwTBEkTxgTFEFO2RghCDm6AH2MaRqRBLHL9r2Xe2Do_Q8MJwgJwdeghwljGDPWB_dTq4tmtJZWNnpkqtG3sdbI0o_8rsprV-obcFVI6_Vwfw_A_PVlPn2PZp9vH9PJLFKEIh9lqmC5pAjnKtZZApnMkyzTiKucplBhkhdS8ZjylCHOkkRynDFKmMIZhZiRAXjubNebrNS50lVTSyvWtSllvRNOGnGuVGYpFu5XEEZjhpJg8NAZLKTVwlSFC5gqjVdiQjBPQ9c4DdTjCbXU0jZL7-ymMa7y5yDsQFU772tdHL-CoGjzF23Aog1YdPmHkrvTEY4Fh7QD8NUBW2cbXfuV3Wx1LQK7qtz2zDg6MRYJFf9rEt2awnDisCbyBxYWmTw</recordid><startdate>20130101</startdate><enddate>20130101</enddate><creator>Domenico, Scopelliti</creator><creator>Orlando, Cipriani</creator><creator>Graziana, Fatone Flavia</creator><creator>Papi, Piero</creator><creator>Giulia, Amodeo</creator><general>Medknow Publications</general><general>Medknow Publications and Media Pvt. 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| ispartof | Annals of maxillofacial surgery, 2013-01, Vol.3 (1), p.84-86 |
| issn | 2231-0746 2249-3816 |
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| source | Medknow Open Access Medical Journals(OpenAccess); PubMed Central Open Access; PubMed (Medline); EZB Electronic Journals Library |
| subjects | Care and treatment Case Report Case studies Cleft palate Diagnosis Patient outcomes Risk factors Williams syndrome |
| title | Cleft palate in Williams syndrome |
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