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Treacher Collins Syndrome: Genetics, Clinical Features and Management [PDF]
Genes, 2021 Piotr Wójcicki +2 more
exaly +2 more sources
Journal of Oral and Maxillofacial Pathology, 2011 Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. It is a congenital malformation of first and second branchial arch which may affect the size and shape of the ears, eyelids, cheek bones, and jaws. The extent of facial deformity varies from one affected individual to another.
Shete, Prachi +3 more
+8 more sources
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
doaj +1 more source
Treacher Collins syndrome [PDF]
Human Molecular Genetics, 1995 Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. In the absence of a candidate gene, a positional cloning approach has been used to isolate the mutated gene which maps to chromosome 5q31.3-32.
openaire +5 more sources
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 +4 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2022 Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities. Case report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third ...
Wei Shin Chou +5 more
doaj +1 more source
Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review [PDF]
Science ProgressXinmiao Fan +2 more
exaly +2 more sources
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
doaj +3 more sources
Treacher Collins Syndrome [PDF]
Circulation, 2013 The patient is a 48-year-old man with Treacher Collins syndrome (TCS) and a precordial murmur known since childhood. He was initially evaluated at 33 years of age for moderate aortic insufficiency and a noncoronary sinus of Valsalva aortic aneurysm. Over time, his aortic disease progressed. His ECG demonstrated sinus rhythm with borderline first-degree
Nikola, Dobrilovic +3 more
openaire +4 more sources
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
doaj +1 more source