نتایج جستجو برای: collins syndrome

تعداد نتایج: 626354  

Journal: :American Journal of Public Health 1994

Journal: :Archives of otolaryngology--head & neck surgery 1995
H A Marres C W Cremers M J Dixon P L Huygen F B Joosten

BACKGROUND The Treacher Collins syndrome (TCS) is an autosomal dominant hereditary syndrome with variable penetrance and expression. The clinical characteristics are the result of dysmorphogenesis of the first and second embryonal branchial arch systems. The gene responsible has been located on the long arm of chromosome 5. Treacher Collins syndrome is rare, and in 60% of the patients the famil...

2005
ALLAN H. BRIGGS

THE first recorded cases of this comparatively rare congenital anomaly were reported by Berry (1889), but it was not until 11 years later that Collins (1900) recognized that the condition occurred as a syndrome. Further cases in Great Britain have been described by Mann and Kilner (1943) and Johnstone (1943). The clinical picture varies considerably from case to case and atypical, incomplete an...

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