Results 21 to 30 of about 1,422,626 (192)

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, E. Pisello, M. Ciuffreda, L. Brugiaferri, J. Silvestri, F. Lacchè, G. Castellana, A. Buonamico, A. Pennacchi, C. Piangatelli, D. Galante   +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, Annita Achilleos, Cynthia L Neben, Amy E Merrill, Paul A Trainor   +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

Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome

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, Jia Shing Chen, Yu Ming Shiao, Ju Chin Tsauer, Yi Fen Chang, Ching Hua Hsiao   +5 more
doaj   +1 more source

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, Juan Carlos De la Cuadra, Hector Lacassie, Alejandro González   +3 more
doaj   +3 more sources

Mandible customized distraction osteogenesis in Treacher Collins patient: Literature review, report of a case and post-distraction analysis

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, Laura De Leonardis, Marco Sagron, Chiara Tore, Giovanni Crivellaro, Federico Baietto   +5 more
doaj   +1 more source

Increased frontonasal angle and surface area of mandibular antegonial notch; reliable signs of Treacher Collins syndrome

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014
Background: Treacher Collin Syndrome is one of the most disfiguring congenital anomalies of the face, the visible part of the human body used for the identification of an individual.
Gyan P Singh, Sneh Lata Verma, Pradeep Tandon, Divya Mehrotra   +3 more
doaj   +1 more source

Franceschetti syndrome

Contemporary Clinical Dentistry, 2011
Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS). It is named after E.
Vikrant Kasat
doaj   +1 more source

Ear Surgery in Treacher Collins Syndrome [PDF]

Annals of Otology, Rhinology & Laryngology, 1995
The autosomal dominant hereditary Treacher Collins syndrome manifests itself phenotypically in dysmorphogenesis of particularly the first, but also the second branchial arch system. Consequently, 50% of patients with Treacher Collins syndrome have a congenital, generally pure conductive hearing loss resulting from a major or minor ear anomaly.
Marres, H.A.M., Cremers, C.W.R.J., Marres, E.H.M.A., Huygen, P.L.M.   +3 more
openaire   +4 more sources

Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review [PDF]

Science Progress
Xinmiao Fan, Xiaowei Chen
exaly   +2 more sources