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《Journal of Clinical Otorhinolaryngology》 2006-13
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Treacher Collins syndrome: case report and literature review

HAO Jin~1 LIU Zheng~2 KONG Weijia~1 WANG Jibao~1 (~1Department of Otorhinolaryngology,Union Hospital,Huazhong University of Science and Technology,Wuhan, 430022, China;~2Department of Otorhinolaryngology, Tongji Hospital of Tongji Medical College, Huazhong of University Science and Technology)  
Objective:To study the genetic background, clinical features, diagnosis, management, and prenatal testing and conseling of Treacher Collins syndrome (TCS).Method:The clinical data of a patient and his mother suffering from TCS was reported and the relevant literatures were also reviewed.Result:TCS is an autosomal dominant disorder characterized by craniofacial mal-development, including antimongoloid slant of the eyes, micrognathia, microtia and other deformity of the ears. TCS results from the mutation in TCOF1 gene (Treacher Collins-Franceschetti Syndrome gene), located in 5q32-q33.1. Diagnosis of TCS is made through clinical evaluation, radiographic examination, and molecular genetic analysis. Treatment is tailored to the specific needs of each individual by a multidisciplinary craniofacial management team. The chosing of optimal operation time and method is very important. Prenatal testing and genetic counseling for risky pregnancy is necessary.Conclusion:The stepwise regimen of treatment is craniofacial reconstruction, orthognathic procedures, orthodontic alignment of the teeth, nasal reconstruction, external ear reconstruction and external auditory canal and middle ear reconstruction.
【CateGory Index】: R596
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