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Am J Med Genet A ; 182(7): 1681-1689, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32488952

RESUMO

Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of FRAS1, FREM2, and GRIP1 genes, encoding components of a protein complex that mediates embryonic epithelial-mesenchymal interactions. Anecdotal reports have described abnormal orodental findings in FS, but no study has as yet addressed the orodental findings of FS systematically. We reviewed dental radiographs of 10 unrelated patients with FS of different genetic etiologies. Dental anomalies were present in all patients with FS and included hypodontia, dental crowding, medial diastema, and retained teeth. A very consistent pattern of shortened dental roots of most permanent teeth as well as altered length/width ratio with shortened dental crowns of upper incisors was also identified. These findings suggest that the FRAS1-FREM complex mediates critical mesenchymal-epithelial interactions during dental crown and root development. The orodental findings of FS reported herein represent a previously underestimated manifestation of the disorder with significant impact on orodental health for affected individuals. Integration of dentists and orthodontists into the multidisciplinary team for management of FS is therefore recommended.


Assuntos
Síndrome de Fraser/etiologia , Coroa do Dente/anormalidades , Raiz Dentária/anormalidades , Adolescente , Adulto , Anodontia , Proteínas de Transporte/genética , Criança , Proteínas da Matriz Extracelular/genética , Feminino , Síndrome de Fraser/genética , Humanos , Incisivo/anormalidades , Masculino , Má Oclusão , Proteínas do Tecido Nervoso/genética , Radiografia Panorâmica , Coroa do Dente/crescimento & desenvolvimento
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