[Treacher Collins syndrome: case report and literature review].

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.