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Treacher-Collins Syndrome Type 1
TCS1

Presentation

It can vary in severity from a very subtle presentation that may go unrecognized to the more severe cases that are noticed immediately and may present with related problems. [kidsplastsurg.com]

Postoperatively, the patient presented occasional nocturnal apnea, despite of permeable choanae. [scielo.br]

This article makes a brief review of the STC and presents the case of a patient diagnosed and treated in the Hospital Universtario San Ignacio. Key words: Mandibulofacial dysostosis, zygoma anomalies. [go.gale.com]

In addition, one patient presented with nail hypoplasia. [gimjournal.org]

Treatment

Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional. [betterhealth.vic.gov.au]

Management and Treatment What is the treatment for Treacher Collins syndrome? Treatment for Treacher Collins is tailored to your child’s specific situation and medical needs. Not all children born with the syndrome require the same treatment. [my.clevelandclinic.org]

Later in childhood, the underdeveloped jaw will require treatment – often with bone grafts and jaw distraction. This is a long term treatment but has good results for the majority of children. [gosh.nhs.uk]

Evaluation and Treatment As in all craniofacial deformities, treatment requires a multidisciplinary team working closely together with the family to attain the best functional and aesthetic result possible. [kidsplastsurg.com]

No single specialist can manage Crouzon syndrome and its associated problems, as treatment usually involves doctors who specialize in many areas. [childrenshospital.org]

Prognosis

In some cases, the prognosis depends on the specific symptoms and severity of the affected person. For example, very severe cases of TCS can cause perinatal death because of a compromised airway. [physio-pedia.com]

Ophthalmic features and visual prognosis in the Treacher-Collins syndrome. Br J Ophthalmol. 1993;77(10):642–645. [PMC free article] [PubMed] [Google Scholar] 8. Fernandez A O, Ronis M L. The Treacher-Collins Syndrome. [ncbi.nlm.nih.gov]

Etiology

Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009 Mar;17(3):275-83. doi: 10.1038/ejhg.2008.221. Epub 2008 Dec 24. [ghr.nlm.nih.gov]

Etiology Treacher Collins syndrome has been associated with mutations in TCOF1, POLR1C, and POLR1D. [eyewiki.aao.org]

Treacher Collins syndrome: etiology, pathogenesis and prevention.Eur J Hum Genet. 2009; 17: 275-283 Shoo B.A. McPherson E. Jabs E.W. [gimjournal.org]

Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009;17:275-283. http://www.ncbi.nlm.nih.gov/pubmed/19107148 Jones NC, Lynn ML, Gaudenz K, et al. [rarediseases.org]

Here we will discuss the clinical features, etiology, current scientific understanding, and treatment protocols for this complex craniofacial syndrome. [ncbi.nlm.nih.gov]

Prevention

This is usually done when the child is 4 to 5 years old or sooner if needed to prevent or facilitate removal of a tracheostomy. [kidsplastsurg.com]

Exercise can prevent age-related changes to muscles, bones and joints and can reverse these changes too. A person with amyloidosis produces aggregates of insoluble protein that cannot be eliminated from the body. [betterhealth.vic.gov.au]

Researchers are exploring ways to inhibit p53 function or block the mechanisms that lead to p53 activation as possible therapeutic treatments to prevent the development of TCS. [rarediseases.org]

Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009 Mar;17(3):275-83. doi: 10.1038/ejhg.2008.221. Epub 2008 Dec 24. [ghr.nlm.nih.gov]

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med 2008;14(2):125-133. ↑ Ashley Davis. Treacher Collins Syndrome. Available from: http://www.youtube.com/watch?v=w5WC0bYsHM0 [last accessed 2019] [physio-pedia.com]

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