Results 11 to 20 of about 6,877 (203)
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
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
+7 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
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 [PDF]
Genetics in Medicine, 2020 Béryl Laplace-BuilhÉ +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 and implications in the oral cavity [PDF]
, 2020 Background and Objective: Treacher Collins syndrome, also called mandibula-facial dysostosis, is a congenital disorder. It is the aim of this work to clarify the etiology, diagnosis, phenotypic craniofacial and oral characteristics of the syndrome, as ...
Cardoso, Inês Lopes, Duque, C.
core +1 more source
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
doaj +1 more source
Clinical Implications of Treacher Collins Syndrome [PDF]
, 2015 __Abstract__ Treacher Collins syndrome (OMIM 154500) is a rare congenital craniofacial condition.1 The incidence of Treacher Collins syndrome is nowadays estimated at 1 in 50,000.2-3 Based on this, every year approximately 4-5 patients are born with
Plomp, R.G. (Raul)
core +9 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