Treacher Collins syndrome

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  • Treacher Collins Syndrome

    1665 Words  | 7 Pages

    information were both used in a limited capacity. The literature review specifically focuses on the effect the syndrome has on the speech and language of affected individuals. I. Characteristics Treacher Collins syndrome is also known as Franceschetti-Klein syndrome and mandibulofacial dysostosis. It was originally written about by George Andreas Berry in 1889 and next by Dr. Edward Treacher Collins in a 1990 case report. In each circumstance,

  • Treacher Collins Syndrome Analysis

    1617 Words  | 7 Pages

    Treacher Collins syndrome, a rare congenital syndrome that occurs in only about one out of every fifty-thousand live births (Trainor, Dixon, & Dixon, 2008) can have a significant affects on craniofacial development. Treacher Collins syndrome, also known as mandibulofacial dysotosis is an autosomal dominant condition, with variable expressivity (Kummer, 2014). There are many features that are said to be classic features of the syndrome, which can help in diagnosis of the condition. Throughout the

  • Causes Of Treacher Collins Syndrome

    335 Words  | 2 Pages

    How would you like your life being in danger right after you’re born because you can’t breathe? Treacher Collins syndrome (TCS) causes underdevelopment of facial bones that could threaten an infant’s life by making it difficult to breathe. If the baby lives past this point they will have many facial deformities. Treacher Collins syndrome happens because of a mutation in TCOF1, POLR1C, or the POLR1D genes. TCS causes an underdeveloped facial bone, a small jaw and chin, an opening in the top of the

  • Treacher Collins Syndrome: A Literature Review

    1381 Words  | 6 Pages

    acknowledged that defective formation, proliferation, migration and differentiation during the neural crest life cycle could potentially result in craniofacial anomalies (Dixon et al., 2006). The authors utilized previous knowledge to study Treacher Collins syndrome, which was known to be an autosomal dominant condition (Valdez et al., 2004) characterized by hypoplasia of facial bones. Predominantly the zygomatic complex and mandible, lateral downward sloping of palpebral fissures, abnormal middle/external

  • Treacher Collins Syndrome Research Paper

    343 Words  | 2 Pages

    Treacher Collins Syndrome is an uncommon inhertance usually from mom or dad. My paper will go over the causes, symptons, treatment, and possible future Genetic Technology that can be done to prevent and cure this disorder. This is not so much a life-threatening syndrome, but it does cause symptoms showing dramatic facial differences and internal issues. Treacher’s Syndrome is caused by the presence of one or multiple allels that are not working the correct way or not functioning at all. The 5th

  • August Pullman And Treacher Collins Syndrome

    296 Words  | 2 Pages

    August Pullman is a 5th grader that has Treacher Collins syndrome. It’s a disease that causes someone’s face to be deformed. This prevents Auggie from going to school. But his family wants him to try it out. He has some good times but most of the time, he doesn’t enjoy it. In this essay, i will be talking about the times that he wasn’t enjoying it. And for these reasons, that’s why i choose for him not to go to school . On page 15, dad said “ so sending him off to middle school like a lamb to the

  • Analysis Of The Book ' Wonder '

    805 Words  | 4 Pages

    The book ”Wonder” written by R.J. Palacio follows a young boy named August Pullman and his struggles in fifth grade. The struggle of being the only kid who looks the way he does. The struggle of being the only kid at his school who has Treacher Collins Syndrome. Even with all the obstacles in his path, August’s overall experience at Beecher Prep has had a positive impact on his life. Not only does August have to deal with bullies because of his facial abnormalities, but he also

  • Treacher Collins Syndrome In R. J. Palacio's Wonder

    644 Words  | 3 Pages

    is what people call him. Who goes through that also it’s about his experience at school with Treacher Collins Syndrome. Although it was hard for him at first, I believe he overcame what people think, and school became a positive experience for Auggie. Auggie was born with Treacher Collins syndrome and a Cleft Palate. After multiple surgeries, his Cleft Palate is mostly gone and the Treacher Collins Syndrome is better than what it was. According to the book, “When I came out of my Mom’s, she said the

  • Treacher Collins Disease Research Paper

    335 Words  | 2 Pages

    Treacher Collins disease is a rare, congenital, craniofacial condition affecting bones, jaws, skin, and muscles of the face. This disorder is caused by a mutation in the gene on chromosome 5. This chromosome affects facial development. This mutation can appear new or be passed on. A person with Treacher Collins has a 50/50 chance of passing it on to their offspring. This disorder comes along with many symptoms such as small or missing ears, no ear canals, missing brow and cheek bones, speech and

  • Treacher Collins Research Paper

    566 Words  | 3 Pages

    Treacher Collins Syndrome was first documented on paper and named after by Edward Treacher Collins in the 1900s’ in Europe. Collins died in 1932 at the age of 70. Collins work was later brought up by Adolphe Franceschetti and David Klein who came across the same conditions but classified and named it as mandibulofacial dysostosis. This was discovered before Collins had written about it by Thomson and Toynbee in 1846-1847 and later by Berry (1889). TCS is defined as an inherited condition in which

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