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Treacher Collins Syndrome (treacher + collins_syndrome)
Selected AbstractsEffect of mandibular distraction osteogenesis on developing molarsORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 4 2007M Kleine-Hakala Structured Abstract Authors,,, Kleine-Hakala M, Hukki J, Hurmerinta K Objective,,, To observe the effect of mandibular distraction osteogenesis (DO) on developing molars. Design,,, Descriptive clinical study. Setting,,, University hospital setting. Seventeen children (mean age 7.6 years) with various syndromes (hemifacial/craniofacial microsomia, Goldenhar syndrome, Treacher Collins syndrome, Nager syndrome and Pyle,Bakwin,Krida syndrome) participated. Experimental variable,,, Severely retrognathic lower jaws were distracted (mean 30 days) with an extraoral bicortically fixed DO device. Outcome measure,,, Consecutive panoramic tomograms were analysed after a mean follow-up period of 3.6 years, range 1,6.9 years. Results,,, The mandibular molars were affected by DO in 13 of the 17 patients which included 18 of 63 mandibular molars studied. Structural changes included root malformations, hindered tooth development and the destruction of tooth follicles. Positional changes such as shifted and tilted teeth were also found. Three injured teeth failed to erupt. These changes were because of splitting of the tooth follicle during the osteotomy (22%), piercing of the tooth follicle by the pin (39%) or migration of tooth germ towards the newly created bone (39%). Fifteen per cent of first molars, 43% of second molars and 31% of third molars were affected during the distraction process. Of all dental injuries, 44% were noticed while the appliance was in place. A further 17% of injuries were noted between 3 months and 1 year postoperatively and 33% during the second postoperative year. Conclusions,,, Although dental injuries are a minor disadvantage compared with the vast benefits offered by DO, focusing on these drawbacks might lead to re-consideration of the type of the device as well as the timing of DO. [source] Tracheal intubation using pediatric Airtraq® optical laryngoscope in a patient with Treacher Collins syndromePEDIATRIC ANESTHESIA, Issue 9 2009Yoshihiro Hirabayashi No abstract is available for this article. [source] Treacher Collins syndrome with choanal atresia: one way to handle the airwayPEDIATRIC ANESTHESIA, Issue 8 2004Eva Nilsson MD DEAA No abstract is available for this article. [source] The prolonged use of the laryngeal mask airway in a neonate with airway obstruction and Treacher Collins syndromePEDIATRIC ANESTHESIA, Issue 6 2003Martin J.L. Bucx MD Summary Upper airway obstruction and difficult tracheal intubation are often encountered in patients with Treacher Collins syndrome (mandibulofacial dysostosis). In this case report, the use of a laryngeal mask airway (LMATM) in a 10-day-old newborn with severe Treacher Collins syndrome and acute airway obstruction is described. It successfully relieved the airway obstruction and was left in situ for an exceptionally long period of 4 days. The difficult decisions with respect to the management of the airway and specifically the role of the laryngeal mask are described. In our opinion, in some newborns with severe mandibulofacial disorders and upper airway obstruction, where conservative airway management procedures have failed, the laryngeal mask can be considered not only to relieve the obstruction but also to buy time until there is full insight into the medical condition and its consequences. [source] Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1PEDIATRICS INTERNATIONAL, Issue 6 2008Hirotaka Fujioka Abstract Background: Treacher Collins syndrome (TCS) is a disorder of craniofacial development, that is caused by mutations in the TCOF1 gene. TCS is inherited as an autosomal dominant trait, and haploinsufficiency of the TCOF1 gene product treacle is proposed to be etiologically involved. Methods: Mutational analysis of the TCOF1 gene was done in 10 patients diagnosed with TCS using single-strand conformation polymorphism and direct sequencing. Results: Among these 10 patients, a novel 9 bp deletion was found, together with a previously reported 2 bp deletion, a novel missense mutation and a novel nonsense mutation in three different families. Familial studies allowed judgment of whether these abnormal findings were responsible for the TCS phenotype, or not. The 9 bp deletion of three amino acids Lys-Glu-Lys (1378,1380), which was located in the nuclear localization domain of treacle, seemed not essential for the treacle function. In contrast, the novel mutation of Ala26Val is considered to affect the LisH domain, an important domain of treacle. All of the mutations thus far detected in exon 5 have resulted in frameshift, but a nonsense mutation was detected (Lys159Stop). Conclusion: The information obtained in the present study provides additional insights into the functional domains of treacle. [source] | ||||||||||