Results 11 to 20 of about 1,422,626 (192)

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, Lília Pereira Abreu Ferro, Jaiede Nicacio da Silva, Daniel Mochida Okada   +3 more
doaj   +2 more sources

A Case Report of a Child with Treacher Collins Syndrome Posted for Craniofacial Reconstruction [PDF]

The Indian Anaesthetists' Forum, 2010
We describe anaesthesia in a child suffering from Treacher Collins Syndrome (TCS) posted for craniofacial reconstruction by mandibular distraction with external ...
Snehalata Dhayagude, Anil Parakh, Priya Ramachandran   +2 more
doaj   +1 more source

Treacher Collins Syndrome

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
doaj   +1 more source

Treacher-Collins Syndrome-A Challenge For Aaesthesiologists

Indian Journal of Anaesthesia, 2009
Treacher-Collins syndrome is a rare congenital disease known to be associated with a difficult airway and presents some of the most hazardous and difficult challenges that anaesthetists may encounter within the entire practice of paediatric anesthesia ...
Leena Goel, Santosh Kumar Bennur, Shweta Jambhale   +2 more
doaj   +1 more source

Treacher Collins syndrome: A case report and review of literature

Journal of Indian Academy of Oral Medicine and Radiology, 2015
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity.
Tarun Kumar, Gagan Puri, Aravinda Konidena, Neha Arora   +3 more
doaj   +2 more sources

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome. [PDF]

Mol Genet Genomic Med
Using whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Fan F, Chen Y, Zhang T, Ma J.
europepmc   +2 more sources

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D. [PDF]

Mol Genet Genomic Med
Targeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Nevondwe P, Mudau M, Seymour H, Kerr R, Lombard Z, Krause A, Carstens N.   +6 more
europepmc   +2 more sources

Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population. [PDF]

Orthod Craniofac Res
ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Sng JHT, Hue JJJ, Rubio-Palau J.
europepmc   +2 more sources

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, Derek M, Steinbacher   +1 more
openaire   +3 more sources

Treacher Collins syndrome

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, Tupkari, JV, Benjamin, Tabita, Singh, Aarti   +3 more
  +8 more sources