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Advanced Dental Care 2018
Dentistry and Craniofacial Research
ISSN: 2576-392X
Page 44
October 08-09, 2018
Moscow, Russia
26
th
International Conference on
Advanced Dental Care
Introduction:
The prevalence of Osteogenesis imperfecta type III
(OI III) as a category of the inherited connective tissue disorders
in South Africa is of paramount importance. Although worldwide,
autosomal recessive (AR) OI is rare, it had emerged that the
frequency of OI III is relatively high in the indigenous Black African
population of South Africa. A review of the literature revealed a
paucity of information regarding the dental and craniofacial
manifestations of the disorder in this ethnic group. For these
reasons, the central theme of this project was the identification,
documentation and analysis of these features in individuals with
OI III in the Black African population of SA.
Methodology:
Documentation of the dental and craniofacial
phenotype and the correlation with the genotype in affected
persons is a major objective of this study. A total of 64 Black
African affected persons with OI III were assessed. In addition 5
persons of Cape Mixed Ancestry (CMA) and 3 Indian individuals
were investigated. By reason of their similarity toOI, three very rare
autonomous genetic thin bone disorders, Pyle Disease, Osteolysis
(Torg-Winchester Syndrome) and Osteoporosis-pseudoglioma
Syndrome were also investigated and documented in this project.
The study had a clinical, imaging and genetic component in which
dental and craniofacial abnormalities in affected persons were
documented. Although radiographic resources were limited, 15
CBCT images, 20 panorex and 20 cephalometric radiographs
were obtained.
Results:
Specific mutations in the
FKBP10
gene were detected
in 27 Black African persons of the total 72 individuals with OI III.
Autosomal recessive OI III in the Black African population of SA
has been shown to be caused by mutations in the
FKBP10
gene.
FKBP10
is one of the newer members of an expanding list of AR
OI genes with the gene map locus 17q21.2. This gene encodes
an extracellular matrix protein FKBP65. In terms of genotype-
phenotype correlations in the Black African population group with
OIIII,23personswiththehomozygousmutation,FKBP10_HOM_c.
[831dupC][831dupC], 3 persons with the compound heterozygous
mutation, FKBP10_CHET_c.[831dupC][831delC] and 1 person
with the compound heterozygous mutation, FKBP10_CHET_c.
[831dupC][1400-4C>G] were identified.
Conclusion:
In SouthAfrica, a developing country, the allocation of
resources in terms of specialized dental facilities is limited. Socio-
economic barriers also exist with patient access to dental care.
The previously neglected dental and craniofacial abnormalities
documented in this study emphasizes the importance of a raised
level of awareness in terms of dental management and the
possible challenges that may be encountered.
drmchetty@mweb.co.zaDental and craniofacial manifestations in rare
genetic thin bone disorders in SA
Manogari Chetty
University of the Western Cape, South Africa
Dent Craniofac Res 2018, Volume 3
DOI: 10.21767/2576-392X-C4-012