TY  - JOUR
A1  - Kunz, Felix
A1  - Kayserili, Hülya
A1  - Midro, Alina
A1  - de Silva, Deepthi
A1  - Basnayake, Sriyani
A1  - Güven, Yeliz
A1  - Borys, Jan
A1  - Schanze, Denny
A1  - Stellzig‐Eisenhauer, Angelika
A1  - Bloch‐Zupan, Agnes
A1  - Zenker, Martin
T1  - Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
JF  - American Journal of Medical Genetics Part A
N2  - 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.
KW  - dental roots
KW  - Fraser syndrome
KW  - hypodontia
KW  - orodental health
KW  - taurodontism
Y1  - 2020
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-216147
VL  - 182
IS  - 7
SP  - 1681
EP  - 1689
ER  -