Syndrome de treacher collins
- Syndrome de treacher collins
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Syndrome de Treacher Collins
Le syndrome de Treacher Collins est une maladie génétique qui associe une hypoplasie des os malaires et zygomatiques (mâchoires), des anomalies de l'oreille externe, un colobome des paupières inférieures, l'absence de cil au niveau des paupières inférieures, une fente du palais et une implantation anormale des cheveux autour des oreilles. Environ la moitié des personnes ont une surdité de transmission en rapport avec une anomalie des osselets.
Sources
- (en) Sara Huston Katsanis, Garry R Cutting, Treacher Collins Syndrome In GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-2005 [1]
Portail de la médecine
Catégorie : Maladie génétique
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Syndrome de Treacher Collins — Référence MIM 154500 Transmission Dominante Chromosome 5q32 q33.1 Gène TCOF1 Mutation Ponctuelle … Wikipédia en Français
Treacher Collins — can refer to: * Treacher Collins syndrome, a rare genetic disorder characterised by craniofacial deformities. * Edward Treacher Collins, the surgeon and ophthalmologist after whom the syndrome was named … Wikipedia
Treacher Collins syndrome — Treacher Collins deformity a hereditary disorder of facial development. It is characterized by underdevelopment of the jaw and zygomatic (cheek) bones and the precursors of the ear fail to develop, which results in a variety of ear and facial… … The new mediacal dictionary
Treacher-Collins syndrome — Treacher Collins syndrome. См. синдром Тричера Коллинза. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
Treacher Collins deformity — Treacher Collins syndrome … The new mediacal dictionary
Treacher Collins syndrome — Infobox Disease Name = Treacher Collins syndrome Caption = DiseasesDB = 13267 ICD10 = ICD10|Q|75|4|q|65 ICD9 = ICD9|756.0 ICDO = OMIM = 154500 MedlinePlus = 001659 eMedicineSubj = plastic eMedicineTopic = 183 MeshID = D008342 Treacher Collins… … Wikipedia
Treacher-Collins-Syndrom — Klassifikation nach ICD 10 Q75.4 Dysostosis mandibulofacialis Franceschetti I Syndrom ((Treacher )Collins Syndrom) … Deutsch Wikipedia
Treacher Collins deformity — see Treacher Collins syndrome … Medical dictionary
Treacher Collins syndrome — a hereditary disorder of facial development. It is characterized by underdevelopment of the jaw and zygomatic (cheek) bones and the precursors of the ear fail to develop, which results in a variety of ear and facial malformations. The ear… … Medical dictionary
Síndrome de Treacher Collins — El síndrome de Treacher Collins es una enfermedad genética caracterizada por deformidades craneofaciales tales como ausencia de pómulos. Su causa es una mutación genética. Lleva el nombre del cirujano y oftalmólogo inglés Edward Treacher Collins… … Wikipedia Español
