Home >> Pediatric Dentistry, Volume 26, Number 6

Orofacial Manifestations of Congenital Fibrillin Deficiency: Pathogenesis and Clinical Diagnostics

Authors: De Coster, Peter J.; Martens, Luc C.; De Paepe, Anne

Source: Pediatric Dentistry, Volume 26, Number 6, November/December 2004 , pp. 535-537(3)

Publisher: American Academy of Pediatric Dentistry

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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.

Keywords: FIBRILLIN; DENTAL ANOMALIES; MARFAN SYNDROME; CONGENITAL CONTRACTURAL ARACHNODACTYLY

Document Type: Short communication

Publication date: 2004-11-01

More about this publication?
  • Pediatric Dentistry is the official publication of the American Academy of Pediatric Dentistry, the American Board of Pediatric Dentistry and the College of Diplomates of the American Board of Pediatric Dentistry. It is published bi-monthly and is internationally recognized as the leading journal in the area of pediatric dentistry. The journal promotes the practice, education and research specifically related to the specialty of pediatric dentistry. This peer-reviewed journal features scientific articles, case reports and abstracts of current pediatric dental research.
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