Article
Orofacial manifestations of congenital fibrillin deficiency: pathogenesis and clinical diagnostics.
Pediatric dentistry - 1 Jan 2000
De Coster Peter J, Martens Luc C, De Paepe Anne
Abstract excerpt
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...
Topics
- Animals
- Calcium-Binding Proteins
- Contracture
- Craniofacial Abnormalities
- Extracellular Matrix Proteins
- Fibrillin-1
- Fibrillin-2
- Fibrillins
- Fingers
- Humans
- Marfan Syndrome