The research progress of Treacher Collins syndrome / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
;
(24): 333-338, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-749693
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phosphoproteins
/
Rehabilitation
/
Congenital Abnormalities
/
DNA-Directed RNA Polymerases
/
Nuclear Proteins
/
Diagnosis
/
Facial Bones
/
Genetics
/
Mandibulofacial Dysostosis
/
Mutation
Type of study:
Diagnostic study
Limits:
Humans
Language:
Chinese
Journal:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Year:
2016
Type:
Article
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