Obstructive Sleep Apnea in Adults with Treacher Collins Syndrome is Related with Altered Anthropometric Measurements, Increased Blood Pressure and Impaired Quality of Life [PDF]
Sleep Science, 2023 Objectives This study aimed at evaluating the risk for obstructive sleep apnea (OSA) and its frequency in adults with Treacher Collins syndrome (TCS).
Leide Vilma Fidélis-da Silva +5 more
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Journal of Indian Academy of Oral Medicine and Radiology, 2008 Treacher Collin′s syndrome is a rare syndrome that is characterized primarily by defects of the structures derived from first and second branchial arches. It is a group of closely related defects of head and face; often hereditary/familial in pattern. We
Y Samata +3 more
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The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome [PDF]
PLoS Genetics, 2016 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.
Kristin E Noack Watt +2 more
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Necrotizing scleritis after strabismus surgery in Treacher Collins syndrome [PDF]
GMS Ophthalmology Cases, 2020 Objective: To describe a case of surgically induced scleral necrosis in Treacher Collins syndrome after strabismus surgery.Methods: A 19-year-old girl underwent bilateral squint surgery.
Rath, Soveeta +3 more
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Tissue specific roles for the ribosome biogenesis factor Wdr43 in zebrafish development. [PDF]
PLoS Genetics, 2014 During vertebrate craniofacial development, neural crest cells (NCCs) contribute to most of the craniofacial pharyngeal skeleton. Defects in NCC specification, migration and differentiation resulting in malformations in the craniofacial complex are ...
Chengtian Zhao +10 more
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Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome [PDF]
Human Genome Variation, 2021 Here we describe three novel TCOF1 mutations found in unrelated patients with Treacher Collins syndrome. These mutations include one deletion, NM_001135243.2:c.2604_2605delAG (p.Gly869Glufs*3), and two substitutions, NM_001135243.2:c.2575C>T (p.Gln859 ...
Bożena Anna Marszałek-Kruk +1 more
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Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization [PDF]
Orphanet Journal of Rare DiseasesBackground Treacher Collins syndrome (TCS) is a congenital disorder primarily caused by the mutation in the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene. However, the significance of many TCOF1 mutations remains uncertain.
Ying Chen +5 more
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Journal of Indian Academy of Oral Medicine and Radiology, 2010 Treacher Collins syndrome is a rare autosomal dominant condition, predominantly affecting the orofacial structures. The incidence varies between 1 in 40,000 to 1 in 70,000 per live births.
Alexander, Peter Sherry
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Treacher Collins Syndrome [PDF]
Seminars in Plastic Surgery, 2012 Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated ...
Christopher C, Chang +1 more
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Anesthesia in Treacher Collins Syndrome for bone anchored hearing aid (BAHA) surgery. [PDF]
Pediatric Anesthesia and Critical Care Journal (PACCJ), 2023 Treacher Collins syndrome (TCS) is a rare genetic disor- der characterized by distinctive abnormalities of the head and face, affecting about one child in every 50000.
S. Sorrenti +10 more
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