The research progress of Treacher Collins syndrome.
- Author:
Pu WANG
;
Xinmiao FAN
;
Yue FAN
- Publication Type:Journal Article
- MeSH:
DNA-Directed RNA Polymerases;
genetics;
Facial Bones;
abnormalities;
Humans;
Mandibulofacial Dysostosis;
diagnosis;
genetics;
rehabilitation;
Mutation;
Nuclear Proteins;
genetics;
Phosphoproteins;
genetics
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2016;30(4):333-338
- CountryChina
- Language:Chinese
-
Abstract:
Treacher Collins syndrome (TCS, OMIM 154500), also known as Franceschetti-Klein syndrome, is a rare disorder that affects the first and second branchial arches. The estimated incidence is 1/50 000 live births. Mutations in TCOF1 (78%-93%) and POLR1C or POLR1D (8%) cause the disease. Most of TCS cases are inherited in a dominant pattern, while a small proportion are inherited in a recessive pattern. TCS has a variable phenotype with typical clinical characteristics including downward-slant of palpebral fissure, malar hypoplasia, mandibular hypoplasia and microtia. TCS management is a multidisciplinary affair, as interventions range from reconstructive to psychosocial. For hearing rehabilitation, TCS patients may have the choices of BAHA, ponto, vibrant soundbridge or bonebridge implantation. In this review, we summarize the TCS clinical malformations, diagnosis, genetics, management and auditory rehabilitation.
