Lin chuang er bi yan hou ke za zhi = Journal of clinical otorhinolaryngology · 2006
[Treacher Collins syndrome: case report and literature review].
Аннотация на английскомСтатьяОбзорНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Hao Jin, Liu Zheng, Kong Weijia, Wang Jibao
Аннотация
OBJECTIVE: To study the genetic background, clinical features, diagnosis, management, and prenatal testing and counseling 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 choosing 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.
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 choosing 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.