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
exaly +4 more sources
Pregnancy with treacher collins syndrome in mechanical heart valve: a case report and discussion treacher collins syndrome and MHV [PDF]
BMC Pregnancy and ChildbirthTreacher Collins syndrome is a congenital genetic disorder, also known as mandibulofacial dysostosis with deafness syndrome. In addition to distinct facial abnormalities, patients typically present with deafness and other associated manifestations, such ...
Xiaoyun Zhang +6 more
doaj +2 more sources
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
doaj +2 more sources
A CASE OF TREACHER COLLINS SYNDROME [PDF]
Balkan Journal of Medical Genetics, 2013 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder.
Ulusal S. +5 more
doaj +3 more sources
Treacher Collins syndrome - a case report. [PDF]
Case Rep Perinat Med, 2023 Abstract Objectives Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis and Franceschetti-Zwahlen- Klein syndrome, is an autosomal dominant disorder of soft tissue and the craniofacial bones. In most cases, TCS is the result of a mutation in the
Fraszczyk-Tousty M +4 more
europepmc +3 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources