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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
exaly +4 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
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
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
doaj +6 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
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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
doaj +1 more source
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
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
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
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes [PDF]
, 2020 Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses.ObjectiveTo investigate four Treacher Collins syndrome patients of the Sgaw Karen family living
Carlson, Bruce M. +7 more
core +1 more source