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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Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome [PDF]
Molecular Genetics & Genomic MedicineBackground Treacher Collins Ι syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well as repeated ...
Dan‐Yan Zhuang +7 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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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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Difficult fiberoptic tracheal intubation in 1 month-old infant with Treacher Collins Syndrome
Brazilian Journal of Anesthesiology, 2018 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 ...
Ricardo Fuentes +3 more
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Assessing nonacceptance of the facial appearance in adult patients after complete treatment of their rare facial cleft [PDF]
, 2012 Background Treatment of patients with severe congenital facial disfigurements is aimed at restoring an aesthetic and functional balance. Besides an adequate level of satisfaction, an individual's acceptance of facial appearance is important to achieve ...
Duivenvoorden, H.J. (Hugo) +3 more
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Interdisciplinary Neurosurgery, 2020 Introduction: Treacher-Collins syndrome is a rare genetic disorder with variable phenotypic expression. Related micrognathia can cause upper airway obstruction in neonatal patients because of posterior tongue displacement.
Federico Apolloni +5 more
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Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome
International Archives of Otorhinolaryngology, 2013 Summary Introduction: Treacher-Collins syndrome is characterized by craniofacial malformations, narrowing of the external auditory canal (EAC), and, in 30% of cases, agenesis of the canal and ossicular chain defects. The use of hearing aids (
Alexandra Kolontai de Sousa Oliveira +3 more
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Treacher Collins syndrome-a case report and review of literature [PDF]
, 2011 Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E Treacher Collins who described the essential components of the condition in 1900 ...
Baldawa, Rahul, Kasat, Vikrant O.
core +1 more source