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Treacher collins

William Fai Ka Tse
Treacher Collins syndrome (TCS, OMIM: 154500), an autosomal-dominant craniofacial developmental syndrome that occurs in 1 out of every 50,000 live births, is characterized by craniofacial malformation. Facial formation involves tight regulation of the craniofacial neural crest cells (NCCs). Mutations in TCOF1, POLR1C, or POLR1D have been identified in affected individuals. In addition to established mouse models, zebrafish models have recently emerged as an valuable method to study facial disease. In this report, we summarized the two updated articles working on the pathogenesis of the newly identified polr1c and polr1d TCS mutations (Lau et al...
October 21, 2016: International Journal of Biochemistry & Cell Biology
Amel Ibrahim, Michael Suttie, Neil W Bulstrode, Jonathan A Britto, David Dunaway, Peter Hammond, Patrizia Ferretti
BACKGROUND: Midface hypoplasia as exemplified by Treacher Collins Syndrome (TCS) can impair appearance and function. Reconstruction involves multiple invasive surgeries with variable long-term outcomes. This study aims to describe normal and dysmorphic midface postnatal development through combined modelling of skeletal and soft tissues and to develop a surgical evaluation tool. MATERIALS AND METHODS: Midface skeletal and soft tissue surfaces were extracted from computed tomography scans of 52 control and 14 TCS children, then analysed using dense surface modelling...
September 2, 2016: Journal of Cranio-maxillo-facial Surgery
Mauro S Porcel de Peralta, Valeria S Mouguelar, María Antonella Sdrigotti, Felipe A A Ishiy, Roberto D Fanganiello, Maria R Passos-Bueno, Gabriela Coux, Nora B Calcaterra
Treacher Collins Syndrome (TCS) is a rare congenital disease (1:50 000 live births) characterized by craniofacial defects, including hypoplasia of facial bones, cleft palate and palpebral fissures. Over 90% of the cases are due to mutations in the TCOF1 gene, which codifies the nucleolar protein Treacle. Here we report a novel TCS-like zebrafish model displaying features that fully recapitulate the spectrum of craniofacial abnormalities observed in patients. As it was reported for a Tcof1(+/-) mouse model, Treacle depletion in zebrafish caused reduced rRNA transcription, stabilization of Tp53 and increased cell death in the cephalic region...
October 6, 2016: Cell Death & Disease
Ricardo Fuentes, Juan Carlos De la Cuadra, Hector Lacassie, Alejandro González
: Neonates and small infants with craniofacial malformation may be very difficult or impossible to mask ventilate or intubate. We would like to report the fiberoptic intubation of a small infant with Treacher Collins Syndrome using the technique described by Ellis et al. CASE REPORT: An one month-old infant with Treacher Collins Syndrome was scheduled for mandibular surgery under general endotracheal anesthesia. Direct laryngoscopy for oral intubation failed to reveal the glottis...
September 27, 2016: Revista Brasileira de Anestesiologia
Michael S Golinko, Etoile M LeBlanc, Andrew M Hallett, Michael Alperovich, Roberto L Flores
BACKGROUND: Cleft palate is present in one-third of patients with Treacher-Collins syndrome. The authors present long-term speech and surgical outcomes of palatoplasty in this challenging patient population. METHODS: A retrospective review of all patients with Treacher-Collins syndrome and cleft palate was conducted over a 35-year period at a single institution. Demographics, palatal, mandibular, airway, and surgical outcomes were recorded. Speech outcomes were assessed by the same craniofacial speech pathologist...
September 2016: Journal of Craniofacial Surgery
Koichi Ueda, Takashi Nuri, Yuka Shigemura
The Treacher Collins syndrome is characterized by both soft and hard tissue deficiencies. To reconstruct malar hypoplasia with both soft and hard tissues, we designed a new method using cartilage grafts, Y-V advancement flaps, and Z plasty with tissue expansion.
May 2016: Plastic and Reconstructive Surgery. Global Open
Shaojuan Hao, Lei Jin, Huijun Wang, Chenlong Li, Fengyun Zheng, Duan Ma, Tianyu Zhang
Treacher Collins syndrome is an autosomal dominant craniofacial malformation mainly caused by mutations in the TCOF1 gene. Few cases have been observed in the Chinese population. Herein, the authors report the mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. Genomic DNA of the patients and their parents was extracted from peripheral blood following a standard protocol. DNA sequencing analysis was performed on all exons and the exon-intron borders of TCOF1, GSC, and HOXA2 in addition to the 1200-bp upstream of TCOF1...
September 2016: Journal of Craniofacial Surgery
Giselle Massi, Dayane Roberta de França, Rosane Sampaio Santos, Angela Ribas, Vinícios Duarte Fonseca, Ana Cristina Guarinello, Nadine de Biagi Ziesemer
BACKGROUND: Treacher Collins syndrome (TCS) is a rare disorder with different levels of severity due to congenital head and face abnormalities which affect language, orofacial musculature, voice and breadth, suction, chewing and swallowing functions. AIMS: This paper objectifies to report a Treacher Collins syndrome patient, describing phonoaudiological changes that can be found in individuals suffering from this syndrome. METHODS & PROCEDURES: The study was carried out with a male child at a teaching Speech Language Pathology clinic in Southern Brazil...
2016: International Tinnitus Journal
Kristin E Noack Watt, Annita Achilleos, Cynthia L Neben, Amy E Merrill, Paul A Trainor
Ribosome biogenesis is a global process required for growth and proliferation of all cells, yet perturbation of ribosome biogenesis during human development often leads to tissue-specific defects termed ribosomopathies. Transcription of the ribosomal RNAs (rRNAs) by RNA polymerases (Pol) I and III, is considered a rate limiting step of ribosome biogenesis and mutations in the genes coding for RNA Pol I and III subunits, POLR1C and POLR1D cause Treacher Collins syndrome, a rare congenital craniofacial disorder...
July 2016: PLoS Genetics
Pu Wang, Xinmiao Fan, Yue Fan
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...
February 2016: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
Jiewen Dai, Jiawen Si, Minjiao Wang, Li Huang, Bing Fang, Jun Shi, Xudong Wang, Guofang Shen
Treacher Collins syndrome (TCS) is a rare, autosomal-dominant disorder characterized by craniofacial deformities, and is primarily caused by mutations in the Tcof1 gene. This article was aimed to perform a comprehensive literature review and systematic bioinformatic analysis of Tcof1-related molecular networks in TCS. First, the up- and down-regulated genes in Tcof1 heterozygous haploinsufficient mutant mice embryos and Tcof1 knockdown and Tcof1 over-expressed neuroblastoma N1E-115 cells were obtained from the Gene Expression Omnibus database...
September 2016: Journal of Craniofacial Surgery
Shaheel Chummun, Neil R McLean, Peter J Anderson, Christianne van Nieuwenhoven, Irene Mathijssen, David J David
INTRODUCTION: Nager syndrome is a rare condition characterized by craniofacial and upper limb abnormalities. It is commonly mistaken for Treacher Collins syndrome, with which it shares the same craniofacial phenotype. However, patients with Treacher Collins do not exhibit hand anomalies, which are seen in patients with Nager syndrome. This paper reviews the multidisciplinary management of patients with Nager syndrome who were treated at the Australian Craniofacial Unit, Adelaide and the Erasmus Medical Centre, Rotterdam...
June 2016: Journal of Craniofacial Surgery
Christian Herlin, David Genevieve, Marie Vincent, Benoit Chaput, Guillaume Captier
No abstract text is available yet for this article.
August 2016: Plastic and Reconstructive Surgery
Raul G Plomp, Irene M J Mathijssen
No abstract text is available yet for this article.
August 2016: Plastic and Reconstructive Surgery
Marco Chi Chung Lau, Ernest Man Lok Kwong, Keng Po Lai, Jing-Woei Li, Jeff Cheuk Hin Ho, Ting-Fung Chan, Chris Kong Chu Wong, Yun-Jin Jiang, William Ka Fai Tse
Treacher Collins Syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects, including the downward slanting palpebral fissures, hypoplasia of the facial bones, and cleft palate (CP). Over 90% of patients with TCS have a mutation in the TCOF1 gene. However, some patients exhibit mutations in two new causative genes, POLR1C and POLR1D, which encode subunits of RNA polymerases I and III, that affect ribosome biogenesis. In this study, we examine the role of POLR1C in TCS using zebrafish as a model system...
June 2016: Biochimica et Biophysica Acta
Ivna Albano Lopes, Rosana Mara Adami Tucunduva, Ana Lúcia Alvares Capelozza, Bruna Stuchi Centurion
PURPOSE: Genial tubercles (GTs) are bony protuberances on the lingual aspect of the mandible symphysis, where genioglossus and geniohyoid muscles are inserted. In the literature, few papers report their real dimensions. Cleft lip and palate are craniofacial anomalies involving the maxilla, but the anatomical structures of the mandible can be altered when these have associated with the cleft, some syndrome. This study aimed to evaluate the GTs of 30 individuals and to make their measurements in cone beam computed tomography examinations...
March 2016: Journal of Craniofacial Surgery
Daisuke Sakai, Jill Dixon, Annita Achilleos, Michael Dixon, Paul A Trainor
Craniofacial anomalies account for approximately one-third of all birth defects and are a significant cause of infant mortality. Since the majority of the bones, cartilage and connective tissues that comprise the head and face are derived from a multipotent migratory progenitor cell population called the neural crest, craniofacial disorders are typically attributed to defects in neural crest cell development. Treacher Collins syndrome (TCS) is a disorder of craniofacial development and although TCS arises primarily through autosomal dominant mutations in TCOF1, no clear genotype-phenotype correlation has been documented...
2016: Nature Communications
Zachary R Conley, Molly Hague, Hiroshi Kurosaka, Jill Dixon, Michael J Dixon, Paul A Trainor
The palate functions as the roof of the mouth in mammals, separating the oral and nasal cavities. Its complex embryonic development and assembly poses unique susceptibilities to intrinsic and extrinsic disruptions. Such disruptions may cause failure of the developing palatal shelves to fuse along the midline resulting in a cleft. In other cases the palate may fuse at an arch, resulting in a vaulted oral cavity, termed high-arched palate. There are many models available for studying the pathogenesis of cleft palate but a relative paucity for high-arched palate...
July 15, 2016: Developmental Biology
Raul G Plomp, Manouk J S van Lieshout, Koen F M Joosten, Eppo B Wolvius, Marc P van der Schroeff, Sarah L Versnel, René M L Poublon, Irene M J Mathijssen
BACKGROUND: No reviews or guidelines are available on evidence-based treatment for the multidisciplinary approach in Treacher Collins syndrome. The authors' aim is to provide an evidence-based review of multidisciplinary treatment of Treacher Collins syndrome based on levels of evidence and supported with graded recommendations. METHODS: A systematic search was performed by means of the PubMed, Web-of-Science, Embase, and Cochrane Central databases (1985 to January of 2014)...
January 2016: Plastic and Reconstructive Surgery
Rosana Mara Adami Tucunduva, Thaís Sumie Nozu Imada, Ivna Albano Lopes, Izabel Regina Fischer Rubira-Bullen, Izabel Maria Marchi de Carvalho
The Pierre Robin sequence (PRS) and the Treacher Collins syndrome (TCS) are conditions that cause significant abnormalities of jaw. This study was conducted in anticipation of evaluating the morphology of interforaminal region and identify the anatomic variations: anterior loop and mandibular incisive canal, in individuals with PRS and TCS by cone-beam computed tomography and compare them with individuals without craniofacial anomalies. By applying the t-test, the results showed no statistically significant difference, allowing to infer that there are no significant differences in interforaminal mandible morphology between groups and indicated that the prevalence and location of the studied anatomic variations are consistent with those described in literature...
January 2016: Journal of Craniofacial Surgery
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