Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.
Craniofacial
Dental
Fractures
IFITM5
Oligodontia
Osteogenesis imperfecta
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
20
06
2018
revised:
01
12
2018
accepted:
19
12
2018
pubmed:
30
12
2018
medline:
13
3
2020
entrez:
30
12
2018
Statut:
ppublish
Résumé
Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mutation in IFITM5. The oro-dental and craniofacial phenotype has not been described in detail, which we therefore undertook to evaluate in a multicenter study (Brittle Bone Disease Consortium). Fourteen individuals with OI type V (age 3-50 years; 10 females, 4 males) underwent dental and craniofacial assessment. None of the individuals had dentinogenesis imperfecta. Six of the 9 study participants (66%) for whom panoramic radiographs were obtained had at least one missing tooth (range 1-9). Class II molar occlusion was present in 8 (57%) of the 14 study participants. The facial profile was retrusive and lower face height was decreased in 8 (57%) individuals. Cephalometry, performed in three study participants, revealed a severely retrusive maxilla and mandible, and moderately to severly retroclined incisors in a 14-year old girl, a protrusive maxilla and a retrusive mandible in a 14-year old boy. Cone beam computed tomograpy scans were obtained from two study participants and demonstrated intervertebral disc calcification at the C2-C3 level in one individual. Our study observed that OI type V is associated with missing permanent teeth, especially permanent premolar, but not with dentinogenesis imperfecta. The pattern of craniofacial abnormalities in OI type V thus differs from that in other severe OI types, such as OI type III and IV, and could be described as a bimaxillary retrusive malocclusion with reduced lower face height and multiple missing teeth.
Identifiants
pubmed: 30593885
pii: S1769-7212(18)30449-X
doi: 10.1016/j.ejmg.2018.12.011
pmc: PMC6594916
mid: NIHMS1015991
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103606Subventions
Organisme : NCATS NIH HHS
ID : U2C TR002818
Pays : United States
Organisme : NIAMS NIH HHS
ID : U54 AR068069
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002369
Pays : United States
Investigateurs
Michael Bober
(M)
Paul Esposito
(P)
David R Eyre
(DR)
Danielle Gomez
(D)
Gerald Harris
(G)
Tracy Hart
(T)
Mahim Jain
(M)
Jeffrey Krisher
(J)
Sandesh Cs Nagamani
(SC)
Eric S Orwoll
(ES)
Cathleen L Raggio
(CL)
Eric Rush
(E)
Peter Smith
(P)
Laura Tosi
(L)
Frank Rauch
(F)
Informations de copyright
Copyright © 2018 Elsevier Masson SAS. All rights reserved.
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