Faculty Collaboration Database

Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. Eur J Med Genet 2019 Dec;62(12):103606

Date

12/30/2018

Pubmed ID

30593885

Pubmed Central ID

PMC6594916

DOI

10.1016/j.ejmg.2018.12.011

Scopus ID

2-s2.0-85060483102 (requires institutional sign-in at Scopus site)   18 Citations

Abstract

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.

Author List

Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR, Members of the BBD Consortium

Author

Gerald Harris PhD Director in the Orthopaedic Research Engineering Center (OREC) department at Marquette University

MESH terms used to index this publication - Major topics in bold

Adolescent
Adult
Child
Child, Preschool
Female
Humans
Male
Middle Aged
Osteogenesis Imperfecta
Phenotype