نتایج جستجو برای: crouzon syndrome
تعداد نتایج: 621949 فیلتر نتایج به سال:
Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known craniosynostosis loci. (J7 Med Genet 1994;31:219-221) Mothercare Unit of Genetics...
PURPOSE Strabismus affects as many as 60% to 70% of patients with Crouzon syndrome. V-pattern strabismus is common and is thought to be secondary to severe oblique muscle dysfunction. The complex motility disorders produced by abnormal extraocular muscles in this syndrome can be difficult to manage. Few studies have reported findings regarding the extraocular muscles or how to plan and adapt th...
Crouzon syndrome is an autosomal dominant condition characterized by craniosynostosis with associated dentofacial anomalies. This report describes the different clinical features in two affected individuals of different families with particular reference to characteristic findings of this syndrome.
IMPORTANCE Crouzon syndrome with acanthosis nigricans is a distinct disorder caused by a mutation in the FGFR3 gene, featuring craniosynostosis, characteristic facial features, and atypical and extensive acanthosis nigricans. Other cutaneous findings have not been thoroughly described. OBSERVATIONS We report 6 cases and summarize the existing literature with regard to the cutaneous manifestat...
Crouzon syndrome (CS) is an autosomal dominant disorder characterised by premature fusion of cranial sutures leading to the clinical condition of craniosynostosis, which is usually associated with skull distorsion. Over the past years several mutations in fibroblast growth factor receptor (FGFR) genes 1, 2, 3 have been identified in both syndromic and non-syndromic craniosynostosis; the patholo...
This paper introduces a novel approach to quantify asymmetry in each point of a surface. The measure is based on analysing displacement vectors resulting from nonrigid image registration. A symmetric atlas, generated from control subjects is registered to a given subject image. A comparison of the resulting displacement vectors on the left and right side of the symmetry plane, gives a point-wis...
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