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Laryngeal mask ventilation in patient with Treacher Collins syndrome [PDF]
, 2021 Introduction: Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development.Case description: A 5-year-old female patient (weight 16.8 kg, height 106 cm), ASA III, was admitted to our hospital for plastic surgery of the ...
Marinov, Ts.; Department of Anesthesiology and Intensive Care, University Hospital “Queen Giovanna” – ISUL, Medical University – Sofia
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Treacher Collins syndrome: A case report and review of literature
SRM Journal of Research in Dental Sciences, 2016 Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E. Treacher Collins who described the essential components of the condition in 1900. The
Tarun Kumar +3 more
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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
Chumpol Ngamphiw +15 more
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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), Plomp, Raul
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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
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Plausible occupational impact on familial Treacher–Collins syndrome: Dental findings and management
Indian Journal of Dental Sciences, 2020 Treacher–Collins syndrome (TCS) is a disorder of autosomal dominant inheritance commonly linked to the mutation of human gene TREACLE (Treacher–Collins–Franceschetti 1).
Namita Kalra +4 more
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British Journal of Plastic Surgery, 1950 Summary Two cases of Treacher Collins syndrome are reported. The family history is shown to be variable, but there appears to be a distinct familial incidence. A comparison has been drawn between the Treacher Collins syndrome and unilateral facial agenesis. The embryology is discussed, and it has been suggested that the causative factor may influence
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Microtia: A Combined Approach by Genetics and Audiology
The Egyptian Journal of Otolaryngology, 2016 En Abstract Introduction Microtia is a condition in which the external portion of the ear (the auricle) is malformed. In the strictest definition, there is also narrowing or absence of the external auditory canal (external auditory meatus).
Elham El-Saiid +4 more
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AUDIOPROSTHETIC APPLICATIONS IN PATIENT WITH TREACHER-COLLINS SYNDROME
, 2022 reservedLa sindrome di Treacher-Collins o sindrome di Franceschetti è una malattia genetica congenita caratterizzata da gravi malformazioni cranio-facciali che vanno a compromettere anche l’organo dell’udito.
ERMACORA, LISA
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, 2021 Tato bakalářská práce je věnovaná Treacher Collinsově syndromu. Tento syndrom se projevuje mutací genů TCOF1, POLR1C nebo POLR1D a je lokalizován na 5., 6. nebo na 13. chromozomu.
Kovářová, Kateřina
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