Syndrome de stickler
- Syndrome de stickler
-
Syndrome de Stickler
Le syndrome de Stickler est une maladie d'origine génétique du tissu conjonctif caractérisée par le docteur G.B. Stickler en 1965 lorsqu'il travaillait à la Mayo Clinic.
Ce syndrome associe :
- Des troubles oculaires à type de myopie précoce, cataracte ou un décollement rétininen.
- Une surdité de transmission ou de perception est fréquente.
- Des anomalies faciales à type de fente labiale ou de syndrome de Pierre Robin.
- Une atteinte osseuse des vertèbres et des épiphyses
- Une arthrose précoce succèdant à une hyperlaxité
Sources
- (en) GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-2005 [1]
Portail de la médecine
Catégories : Maladie génétique | Maladie constitutionnelle de l'os | Collagénopathie
Wikimedia Foundation.
2010.
Contenu soumis à la licence CC-BY-SA. Source : Article Syndrome de stickler de Wikipédia en français (auteurs)
Regardez d'autres dictionnaires:
Syndrome de Stickler — Référence MIM 108300 184840 604841 Transmission Dominante Chromosome 1p21 6p21.3 … Wikipédia en Français
Stickler syndrome — Infobox Disease Name = Stickler syndrome Caption = DiseasesDB = 29327 ICD10 = ICD10|Q|87|8|q|80 ICD9 = ICD9|756.0 ICDO = OMIM = 108300 OMIM mult = OMIM2|277610 OMIM2|184840 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Stickler syndrome … Wikipedia
Stickler — is a family name which may refer to any of the following:*Alfons Maria Stickler (1910 mdash;2007), Roman Catholic clergyman *Dick Stickler, U.S. politician *Friedrich Stickler (born 1949), Austrian football official *Helen Stickler (born 1968), U … Wikipedia
Stickler syndrome — Stickler syndrome. См. синдром Стиклера. (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.
Stickler syndrome — Stick·ler syndrome stik lər n a variable disorder of connective tissue involving the skeleton, face, and eyes that is characterized by myopia, retinal detachment, cleft palate, micrognathia, flat facies, premature arthritis, hip deformity, and… … Medical dictionary
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Stickler — Gunnar B., U.S. physician, *1925. See S. syndrome … Medical dictionary
Marshall syndrome — Classification and external resources OMIM 154780 DiseasesDB 31965 Marshall syndrome is a genetic disorder of the connec … Wikipedia
Marfan syndrome — Marfan redirects here. For the person after whom the syndrome is named, see Antoine Marfan. Marfan syndrome Classification and external resources Micrograph demonstrating myxomatous degeneration of the aorti … Wikipedia
Weissenbacher-Zweymüller syndrome — Infobox Disease Name = PAGENAME Caption = Autosomal recessive inheritance DiseasesDB = 31966 ICD10 = ICD9 = ICDO = OMIM = 277610 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Weissenbacher Zweymuller syndrome is an autosomal recessive… … Wikipedia
