Extreme oral manifestations in a Marfan-type syndrome.
A 12-year-old girl with an otherwise typical Marfan syndrome (Ghent criteria fulfilled) presented with highly unusual oral manifestations consisting of supernumerary teeth and severe dental crowding. Pathological examination of the supernumerary teeth revealed an elevated number of pulpoliths. No mutation in the FBN1, TGFBR1 and TGFBR2 genes was identified despite exhaustive screening, suggesting that another gene defect could explain this association of marfanoid features with dental abnormalities.
Service de Chirurgie Maxillo-Faciale and Stomatologie, CHU de Nantes, France. roman.khonsari@kcl.ac.uk <roman.khonsari@kcl.ac.uk>
R H
RH
Khonsari
P
P
Corre
Z
Z
Boukerma-Vernex
J
J
Schmidt
K
K
Renaudin
C
C
Frayssé
M
M
Gayet-Delacroix
P
P
Khau Van Kien
A
A
David
D002648:Child; D003788:Dental Pulp Diseases / Q000209:etiology* / Q000235:genetics; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008310:Malocclusion / Q000209:etiology; D008382:Marfan Syndrome / Q000150:complications*; D008840:Microfilament Proteins / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D014096:Tooth, Supernumerary / Q000209:etiology* / Q000235:genetics; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta; C000605722:FBN1 protein, human; D054392:Adipokines; C000625841:TGFBR1 protein, human