Related Experiment Video
Updated: Aug 20, 2026

Biological Preparation and Mechanical Technique for Determining Viscoelastic Properties of Zonular Fibers
Published on: December 16, 2021
Orofacial manifestations of congenital fibrillin deficiency: pathogenesis and clinical diagnostics
Peter J De Coster1, Luc C Martens, Anne De Paepe
1Department of Paediatric Dentistry, Centre for Special Care, Paecamed Research, University of Ghent, Belgium.
Abstract:
Mutations in the genes encoding fibrillin, an extracellular matrix protein involved in providing elastic properties to the connective tissues, may result in specific craniofacial and oral anomalies. A number of craniofacial (retrognathia, dolichocephaly, high palate) and dental (root deformity, pulp calcification) manifestations are considered pathognomic for the Marfan syndrome (MFS), a condition caused by congenital fibrillin-1 deficiency. Reports on similar features in congenital contractural arachnodactyly (CCA), caused by fibrillin-2 deficiency, support the hypothesis that fibrillin deficiency might result in a number of morphological anomalies by influencing tissue interaction during growth and development. Hence, clinical manifestations can be related to specific aspects of fibrillin deficiency pathogenesis, and may be adopted as diagnostic tools in the outlook for affected individuals.
Related Concept Videos
Fibril-associated Collagen
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Types of Intermediate Filaments
Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Type IV Collagen of Basal Lamina
A type IV collagen molecule has six alpha chains which can exist in...
Introduction to Fibroblasts

