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Source publication
Objectives
Osteogenesis imperfecta type III (OMIM 259420) is a severe autosomal recessive disorder. Affected individuals have multiple fractures, develop limb deformities with spinal malalignment and stunted stature.
Materials and methods
The frequency of Osteogenesis imperfecta type III (OI III) is relatively high in the indigenous Black African...
Context in source publication
Citations
... Also, disturbances in craniofacial development have been reported. Patients may present with a triangular face, protruding temporal bone, prominent frontal bone, macrocephaly, condyle shape alteration, maxillary hypoplasia, and alteration of the maxillomandibular horizontal relationship [5][6][7]. OI patients are at increased risk for a class III occlusal relationship, in addition to a high incidence of posterior open bite and posterior and anterior crossbite [8,9]. ...
Objective
Craniofacial and oral manifestations of Osteogenesis Imperfecta (OI) can affect the functioning of the stomatognathic system and impact the patient’s quality of life. The objective of the study was to evaluate the relationship between craniofacial and oral manifestations and the Oral Health-related Quality of Life (OHRQoL) of OI children and adolescents. Material and Methods: A total of 30 OI patients aged eight to fourteen years old followed up at the Oral Care Center for Inherited Diseases were enrolled in the research. OHRQoL was assessed using the short form of the Child Perceptions Questionnaire (CPQ) for eight to ten-year-olds (CPQ8–10) and 11 to 14-year-olds (CPQ11–14). The relationship between the OHRQoL index and its assessment domains, OI types, and the presence of dentinogenesis imperfecta (DI), class III malocclusion, and dental agenesis were evaluated. Results: The median CPQ score of patients was 5, and there was no significant difference in OHRQoL between children and adolescents, nor associated with the disease severity or the presence of DI. The oral manifestations evaluated did not directly impact the patients’ OHRQoL. Conclusions: The study demonstrated that the perception of OHRQoL is similar for both adolescents and children. The oral symptom was the most relevant domain for the index among patients aged eight to fourteen years while the emotional well-being was the most impacted. Clinical Relevance: this study makes contributions by indicating that addressing dental care for children and adolescents with OI is important in clinical management and better OHRQoL for this population.
... Also, disturbances in craniofacial development have been reported. Patients may present with a triangular face, protruding temporal bone, prominent frontal bone, macrocephaly, condyle shape alteration, maxillary hypoplasia, and alteration of the maxillomandibular horizontal relationship [3][4][5]. OI patients are at increased risk for a class III occlusal relationship, in addition to a high incidence of posterior open bite and posterior and anterior crossbite [6,7]. ...
Objective: Craniofacial and oral manifestations of Osteogenesis Imperfecta (OI) can affect the functioning of the stomatognathic system and impact the patient’s quality of life. The objective of the study was to evaluate the relationship between craniofacial and oral manifestations and the Oral Health-related Quality of Life (OHRQoL) of OI children and adolescents. Material and
Methods: A total of 30 OI patients aged 8 to 14 years old followed up at the Oral Care Center for Inherited Diseases were enrolled the research. OHRQoL was assessed using the of the Child Perceptions Questionnaire (CPQ) for 8 to 10-year-olds (CPQ) and for 11 to 14-year-olds (CPQ11-14). The relationship between the OHRQoL index and its assessment domains, OI types, and the presence of dentinogenesis imperfecta (DI), class III malocclusion and dental agenesis were evaluated.
Results: The median CPQ score of patients was 5 and there w no significant difference on OHRQoL between children and adolescents, nor associated with the disease severity or the presence of DI. The oral manifestations evaluated did not directly impact the patients’ OHRQoL.
Conclusions: The study demonstrated that perception of OHRQoL is similar for both adolescents and children. The oral symptom was the most relevant domain for the index among patients aged 8 to 14 years while the well-being was the most impacted.
Clinical Relevance: The detailed assessment of OHRQoL in OI patients helps in the development of more qualified treatment strategies focused on the factors with the greatest impact on the patient's life.
... Important orodental and craniofacial features are also reported in OI patients, including dentinogenesis imperfecta, impacted teeth, ectopic eruption, dental agenesis, failure of maxilla growth and hypotonia of masticatory muscles [10][11][12][13]. In addition, changes in condyle shape and reduced mouth opening have been reported in patients with OI type III [14,15]. ...
... The mandibular condyle is part of the temporomandibular joint (TMJ), a synovial joint of particular importance in all movements involving chewing, swallowing and speech functions. Although many patients with OI have evident orofacial singularities, bone quality and disruption involving the TMJ are poorly reported in the literature [14][15][16]. ...
... FD can also depict trabecular bone changes of the mandibular condyle in patients with temporomandibular disorders [34]. Recent studies have described changes in condyle morphology and its effect on TMJ clinical function in patients with OI [14,24]. Despite the importance of TMJ to mandibular and facial growth, previous studies have only investigated trabecular bone pattern in OI patients in mandibular body sites [22,23]. ...
Patients with Osteogenesis Imperfecta (OI) present extra-skeletal manifestations, including important orodental and craniofacial features as dentinogenesis imperfecta, dental agenesis, failure of maxilla growth and hypotonia of masticatory muscles. These features may compromise vital functions speech and mastication. Studies have demonstrated that cyclic pamidronate infusion, the standard therapy for patients with moderate to severe OI, influences the histomorphometric pattern of different body bones. The present study aimed to investigate the condyle trabecular bone pattern in OI patients. We used fractal dimension (FD) analysis on dental panoramic radiographic images to characterize the mandibular condyle trabecular bone in adolescents diagnosed with OI and treated with pamidronate. Imaging exam of 33 adolescents of both sexes, aged between 12 and 17 years, were analyzed and compared with 99 age- and sex-matched healthy adolescents. FD in patients was significantly lower (1.23 ± 0.15) than in healthy controls (1.29 ± 0.11; p < 0.01). Type of OI, age at treatment onset, and the duration of therapy were variables that showed a statistically significant effect on the FD results. This study demonstrated that the bone architecture of mandibular condyles may be altered in pediatric patients with moderate and severe forms of OI. Also, pamidronate treatment seems to have a positive effect on condyle trabecular bone in these patients. This is supported by our finding that FD values were positively influenced by the length of cyclic pamidronate treatment at the time of imaging, as well as by the age of the individual at treatment onset.
... During mastication, compressive, shearing, and other complex forces are exerted on the mandibular condyle [21]. Condylar growth is affected by heredity [24][25][26][27], hormones [28][29][30][31][32], the environment [33,34], systemic diseases [35][36][37] and stress [38,39] and is significant in the development of the orofacial complex [40]. Customary mastication consists a physiological stress to the TMJ, of great importance for its development in adolescence and the remodeling in adulthood [41]. ...
Treating extreme mandibular growth is challenging. The mandible is pushed backwards to address itsprotrusion. Nevertheless, conclusions after such displacement in animals have been contradictory. The aim of the present review is to present measurable alterations of the mandible and the condyle following retractionin healthy rats or rabbits. PubMed, Scopus and Web of Science were accessed for relevant studies up to October 2020. Eligibility was determined by the PICOS process, while the risk of bias was estimated with SYRCLE’s risk of bias tool. Retraction resulted in a more distal molar occlusion and the condyle rested more posteriorly. Mandibular anteroposterior bilateral growth restriction was achieved, the condylar process measured smaller and its angulation increased. The condylar neck thickened, its posterior surface flattened, the coronoid process was measured longer, and enlarged retromolar density was registered. Differences in the ramus height and the intercondylar distance were insignificant. Changes persisted for the period of study and subsequently the mandible resumed its inherited growth pattern. The timing of mandibular shaping and TMJ outcomes might depend on the properties of the applied force. Stability is of concern and well-structured, long-term studies are expected to resolve the issue and further clarify the results of posterior mandibular displacement.
... Moreover, numerous studies have found an association between conditions and syndromes affecting the craniofacial complex and morphological deviations of the sella turcica. These include Williams syndrome [8], Down syndrome [6], osteogenesis imperfecta [16], Axenfeld-Rieger syndrome [9], cleft-lip and palate [7], trisomy 18, Fragile X syndrome, and Cri-du-chat syndrome [1]. ...
Background
The sella turcica is an important anatomical reference used in orthodontics and the evaluation of craniofacial growth. Studies have found an association between variations in sella turcica morphology in patients with certain syndromes affecting the craniofacial complex. It is hypothesized that each related syndrome or pathological condition is associated with a specific pattern of malformation of the sella turcica.
Objective
This study outlines the protocol for a systematic review that aims to determine if genetic syndromes involving the craniofacial complex are associated with abnormal radiographic sella turcica morphology and if there is a pattern of malformation that is consistent with each syndrome.
Methods
An electronic database search was conducted using a planned search strategy to identify relevant studies. We included primary studies evaluating the morphology of the sella turcica based on imaging from a lateral view. Specifically, only studies with postnatal human participants with genetic syndromes involving the craniofacial complex were included in this review. We placed no restrictions on the language or time frame of these studies. Based on the search findings, studies were further screened for relevance and eligibility by two independent reviewers. Data were extracted from the selected studies. We assessed the selected studies for risk of bias and quality by using risk of bias tools from the Joanna Briggs Institute. We will provide a narrative synthesis of our findings and a structured summary based on prespecified themes.
Results
The protocol is registered with PROSPERO (#CRD42019148060) and approved by the University of Western Cape Biomedical Science Research Ethics Committee (BM205/3). The literature search was conducted in September 2019 and updated in July 2020. The study was completed in August 2020, and the findings will be published in an open-access journal.
Conclusions
The results of this systematic review are expected to provide a comprehensive list of morphological variations of the sella turcica, which will aid in the identification of syndromes associated with the craniofacial complex. We also expect to identify patterns of sella turcica morphology that highlight genotype-phenotype correlations, thus adding to the body of evidence relating to genetics and craniofacial malformations.
Trial Registration
PROSPERO International Prospective Register of Systematic Reviews CRD42019148060; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=148060
International Registered Report Identifier (IRRID)
RR1-10.2196/16633
... The complexity of the current categorization became apparent during a study undertaken in South Africa which documented the oral and craniofacial manifestations in 64 Black South African persons with a confirmed diagnosis of osteogenesis imperfecta type III (OI III), based on the phenotypic manifestations of the disorder. 5 Subsequent molecular investigations resulted in 23 of these individuals being further delineated as having the OI XI genotype due to homozygous mutations in FKBP10. 6 During the last decade, extensive molecular investigations into the etiology of OI have been undertaken and it has emerged that the molecular determinants are complex. ...
Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although individually rare, the several different forms contribute to the production of a significant number of affected individuals with considerable morbidity and mortality. During the last decade, there have been extensive molecular investigations into the etiology of OI and these advances have direct relevance to the medical management of the disorder, and the purpose of this review is to document the history and evolution of the nosology of OI. The current nosology, based on molecular concepts, which are crucial in the identification of genotype‐phenotype correlations in persons with OI, is also outlined. The successive revisions of the nosology and classification of OI have highlighted the importance of the nomenclature of the condition in order for it to be recognized by clinicians, scientists and patient advocacy groups. In this way, improved counseling of patients and individualized, tailored therapeutic approaches based on the underlying pathophysiology of the individual's type of OI have been facilitated.
Objectives:
To compare the craniofacial and neurocranial morphology of adults with OI with controls and to elucidate if osseous origin impacts on morphological deviations in OI.
Materials and methods:
Fifty-four adults (mean age 45.8) with OI type I, 14 adults (mean age 42.6) with OI types III/IV, and 49 adult controls (mean age 41.0) were included. All participants had European ethnicity. Cranial morphology was assessed by 2D-cephalometry. Comparison between groups were made by multiple regression analyses.
Results:
Comparison between OI groups and controls: 1) Dimension of the maxilla and mandible, respectively was reduced (p<0.01), and in relation to the posterior cranial base, the maxilla was retro-positioned (p<0.001), and the mandible was prognathic (p<0.001). 2) The anterior face height was reduced (p<0.04), and in OI types III/IV only, the maxilla was posteriorly inclined (p<0.001). 3) Anterior cranial base (p<0.001) and the dimension sella-frontale (p<0.02) were short. 4) The sagittal dimension of the posterior cranial fossa was increased (p<0.01), and the vertical dimension was reduced (p<0.01).
Conclusions:
Adults with OI had a hypoplastic, retro-positioned, and posteriorly inclined maxilla, a hypoplastic and forward-positioned mandible, and a reduced anterior face height. Deviations were seen in morphology of the posterior cranial fossa. The impact of OI on cranial morphology was generally more evident in OI type III/IV than in OI type I. OI impacts on osseous cranial structures irrespective of bony origin being intramembranous or endochondral.
Objective
To evaluate whether individuals with osteogenesis imperfecta (OI) are more affected by malocclusion than individuals without OI.
Materials and Methods
Searches in PubMed, Ovid, Web of Science, Scopus, Lilacs and gray literature were performed. Data extraction was conducted by two researchers. Risk of bias assessment employing the Newcastle‐Ottawa Scale and meta‐analysis were conducted. Results were provided with mean difference (MD), odds ratio (OR) and 95% confidence interval (CI). Strength of evidence was determined.
Results
Six cross‐sectional studies were included. In comparison with individuals without OI, the group with OI had 19.69‐fold greater chance of exhibiting Angle Class III malocclusion (OR = 19.69, CI: 9.00–43.09) and presenting anterior crossbite greater (MD = 6.08, CI: 2.40–9.77). Individuals without OI had a significantly greater ANB angle (MD = 3.88, CI: 1.15–6.61) and SNA angle (MD = 2.11, CI: 0.24–3.98) in comparison with those with OI. No difference between groups was found for SNB (MD = −0.50, CI: −2.21 to 1.21) and open bite (MD = 0.98, CI: −0.29 to 2.25). Most studies included had moderate methodological quality. Strength of evidence was low or very low.
Conclusions
The occurrence of Angle Class III malocclusion and anterior crossbite was greater among individuals with OI compared to those without OI. These findings can assist stakeholders about the occlusal abnormalities affecting OI individuals.
Background:
The sella turcica is an important anatomical reference used in orthodontics for the evaluation of craniofacial growth. Studies have found variations in the sella turcica morphology in patients with syndromes affecting the craniofacial complex. This review aims to determine if genetic syndromes involving the craniofacial complex are associated with abnormal radiographic sella turcica morphology and if there is a pattern of malformation which is consistent within each syndrome.
Methods:
An electronic database search was conducted to identify relevant studies. We included primary studies describing the morphology of the sella turcica on lateral radiographs in human subjects with genetic syndromes involving the craniofacial complex. No restrictions were placed on language or timeframe. PROSPERO registration XXX.
Results:
Thirty-eight Studies were included in this review. A "J"-shaped sella was found in patients with Hutchinson-Gilford-Progeria syndrome and other syndromes. A bulbous dorsum sellae was highly prevalent Cleidocranial dysplasia and a bulbous dorsum sellae and uneven contours of the clivus was found in Cri-du-Chat syndrome. A steep clivus was described in patients with Axenfeld-Rieger syndrome. An oblique anterior wall was the most frequent malformation found in Down's syndrome.
Conclusion:
Genetic syndromes affecting the craniofacial complex are associated with abnormal morphology of the radiographic sella turcica. Clinicians should be observant of abnormal sella turcica morphology which can be a sign of undiagnosed or subclinical syndromes. More high-quality studies are needed which use standardized and objective methods of determining the morphology of the sella turcica.
