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Genetics and Management of the Patient with Orofacial Cleft
Joint Authors
Kobayashi, Gerson Shigeru
Passos-Bueno, Maria Rita
Meira, Joanna Goes Castro
Brito, Luciano Abreu
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-11-01
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
Cleft lip or palate (CL/P) is a common facial defect present in 1 : 700 live births and results in substantial burden to patients.
There are more than 500 CL/P syndromes described, the causes of which may be single-gene mutations, chromosomopathies, and exposure to teratogens.
Part of the most prevalent syndromic CL/P has known etiology.
Nonsyndromic CL/P, on the other hand, is a complex disorder, whose etiology is still poorly understood.
Recent genome-wide association studies have contributed to the elucidation of the genetic causes, by raising reproducible susceptibility genetic variants; their etiopathogenic roles, however, are difficult to predict, as in the case of the chromosomal region 8q24, the most corroborated locus predisposing to nonsyndromic CL/P.
Knowing the genetic causes of CL/P will directly impact the genetic counseling, by estimating precise recurrence risks, and the patient management, since the patient, followup may be partially influenced by their genetic background.
This paper focuses on the genetic causes of important syndromic CL/P forms (van der Woude syndrome, 22q11 deletion syndrome, and Robin sequence-associated syndromes) and depicts the recent findings in nonsyndromic CL/P research, addressing issues in the conduct of the geneticist.
American Psychological Association (APA)
Brito, Luciano Abreu& Meira, Joanna Goes Castro& Kobayashi, Gerson Shigeru& Passos-Bueno, Maria Rita. 2012. Genetics and Management of the Patient with Orofacial Cleft. Plastic Surgery International،Vol. 2012, no. 2012, pp.1-11.
https://search.emarefa.net/detail/BIM-497661
Modern Language Association (MLA)
Brito, Luciano Abreu…[et al.]. Genetics and Management of the Patient with Orofacial Cleft. Plastic Surgery International No. 2012 (2012), pp.1-11.
https://search.emarefa.net/detail/BIM-497661
American Medical Association (AMA)
Brito, Luciano Abreu& Meira, Joanna Goes Castro& Kobayashi, Gerson Shigeru& Passos-Bueno, Maria Rita. Genetics and Management of the Patient with Orofacial Cleft. Plastic Surgery International. 2012. Vol. 2012, no. 2012, pp.1-11.
https://search.emarefa.net/detail/BIM-497661
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-497661