• Journal of Genetic Medicine
• /
• v.10 no.2
• /
• pp.109-112
• /
• 2013

Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic arches, micrognathia, macrostomia, microtia, and other deformities of the ears. TCS is caused by mutations in at least 3 genes involved in pre-rRNA transcription: TCOF1, POLR1D and POLR1C. We experienced a 1-day-old female infant with characteristic clinical features of TCS. A novel, heterozygotic mutation within the TCOF1 gene (c.3874_3875insG, p.Ala1292Glyfs*30) was identified to cause a premature stop codon.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.15 no.1
• /
• pp.79-83
• /
• 2019

Treacher Collins syndrome(TCS) is an autosomal craniofacial development disorder which results from mutations in the gene TCOF1. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss. Oral manifestations are characterized by cleft palate, shortened soft palate, malocclusion, anterior open bite and enamel hypoplasia. The purpose of this presentation is to describe the interesting aspects of dental treatment of a patient with TCS. A 6-year-old boy with TCS visited Seoul National University Dental Hospital for dental caries. Multiple caries was observed from clinical and radiographic examination. Because of multiple caries and behavior management ploblem, dental treatment under general anesthesia was planned. Treatment of posterior teeth was performed and some primary teeth were extracted. General anesthesia was induced and maintained with sevoflurane, nitrous oxide and oxygen. Under general anesthesia, successful dental procedure was done. Considering behavior management problem and medical condition of patient with TCS, general anesthesia can be useful.