We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Orofacial manifestations of congenital fibrillin deficiency: pathogenesis and clinical diagnostics.
- Authors
De Coster, Peter J.; Martens, Luc C.; De Paepe, Anne
- 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.
- Subjects
GENETIC mutation; GENES; HEREDITY; EXTRACELLULAR matrix proteins; DOLICHOCEPHALY; GENETIC disorders
- Publication
Pediatric Dentistry, 2004, Vol 26, Issue 6, p535
- ISSN
0164-1263
- Publication type
journal article