Connective tissue disordersPathophysiologyGeneticIncidental findingsObservational studiesPurpose : An underlying connective tissue disorder (CTD) may predispose to formation of intestinal diverticula. We assess the association of diverticulosis with nine selected CTDs, to inform the pathophysiology of ...
several cysteine-rich motifs. Genetic defects of the fibrillin 1 (FBN1) gene present on chromosome 15 cause a multisystem connective tissue disorder known as Marfan’s syndrome. Mutations in a homologous gene on chromosome 5 that encode fibrillin 2 glycoprotein also cause connective tissue disorders...
Formal genetics evaluation and diagnosis with a hereditary connective tissue disorder (CF) ii. Signed consent iii. Severe headache and/or neck pain greater than or equal to 7/10 by the visual analog scale for greater than 6 months. iv. Symptoms of the cervical medullary syndrome [1, 79] v...
Purpose: An underlying connective tissue disorder (CTD) may predispose to formation of intestinal diverticula. We assess the association of diverticulosis with nine selected CTDs, to inform the pathophysiology of diverticula. Methods: A population-based period-prevalence study. Individuals (3.5 million ...
Hereditary connective tissue diseases such as Marfan syndrome are therefore classified as rare diseases. The prevalence of Marfan syndrome is 1:5000 for both genders [2,3]. Marfan syndrome is a genetic systemic connective tissue disorder with varied and combined symptoms of the heart, circulation, ...