Normal Dentition Research Articles

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.

Cleidocranial dysplasia (CCD) is a skeletal disorder affecting cranial sutures, teeth, and clavicles, and is associated with the RUNX2 mutations. Although numerous patients have been described, a direct genotype–phenotype correlation for RUNX2 has been difficult to establish. Further cases must be studied to understand the clinical and genetic spectra of CCD.ObjectivesTo characterize detailed phenotypes and identify variants causing CCD in five unrelated patients and their family members.MethodologyClinical and radiographic examinations were performed. Genetic variants were identified by exome and Sanger sequencing, data were analyzed by bioinformatics tools.ResultsThree cases were sporadic and two were familial. Exome sequencing successfully detected the heterozygous pathogenic RUNX2 variants in all affected individuals. Three were novel, comprising a frameshift c.739delA (p.(Ser247Valfs*)) in exon 6 (Patient-1), a nonsense c.901C>T (p.(Gln301*)) in exon 7 (Patient-2 and affected mother), and a nonsense c.1081C>T (p.(Gln361*)) in exon 8 (Patient-3). Two previously reported variants were missense: the c.673C>T (p.(Arg225Trp)) (Patient-4) and c.674G>A (p.(Arg225Gln)) (Patient-5) in exon 5 within the Runt homology domain. Patient-1, Patient-2, and Patient-4 with permanent dentition had thirty, nineteen, and twenty unerupted teeth, respectively; whereas Patient-3 and Patient-5, with deciduous dentition, had normally developed teeth. All patients exhibited typical CCD features, but the following uncommon/unreported phenotypes were observed: left fourth ray brachymetatarsia (Patient-1), normal clavicles (Patient-2 and affected mother), phalangeal malformations (Patient-3), and normal primary dentition (Patient-3, Patient-5).ConclusionsThe study shows that exome sequencing is effective to detect mutation across ethnics. The two p.Arg225 variants confirm that the Runt homology domain is vital for RUNX2 function. Here, we report a new CCD feature, unilateral brachymetatarsia, and three novel truncating variants, expanding the phenotypic and genotypic spectra of RUNX2 , as well as show that the CCD patients can have normal deciduous teeth, but must be monitored for permanent teeth anomalies.

Therapeutic options in the treatment of supernumerary teeth

Introduction. Hyperdontia or supernumerary teeth are excess number of teeth in comparison to normal dentition. The aim of this study was to present different variants of permanent supernumerary teeth, as well as their observation or elimination in order to prevent possible complications Case report. Six different cases of hyperdontia are presented in this paper. All hyperdontia cases were multidisciplinary evaluated and individual treatment protocols were applied. Already erupted supernumerary teeth were extracted without surgical intervention. Unerupted teeth were surgically removed or left for observation. Conclusion. Early and frequent dental check-ups are very important for children in order to detect possible dentition irregularities and thus timely start with appropriate therapy.

Recep Tayyip Erdoğan Üniversitesi Diş Hekimliği Fakültesi'ne Başvuran Çocuklarda Diş Sayı Anomalileri: Bir Retrospektif Kesitsel Çalışma

Objective: Hypodontia is tooth deficiency compared to normal dentition, whereas hyperdontia is the presence of extra teeth. Hypodontia and hyperdontia are opposite numerical variations of human dentition and the occurrence of both is called concomitant hypohyperdontia (CHH). In this study, we aimed to determine the prevalence of dental number anomalies in children aged 7-12 years. Material and Methods: We examined 7,011 children with good quality panoramic radiographs and no history of the syndrome was examined for the presence of dental number anomalies among children who applied to Recep Tayyip Erdoğan University Department of Pediatric Dentistry between 2015 and 2019. Statistical analysis was performed using SPSS software and the chi-square test. Results: Out of 7,011 patients, 360 (5.14%) had congenital anomalies in tooth number. The prevalences of congenital absence of teeth and hyperdontia were 4.75% and 0.4%, respectively. CHH was observed in one patient only. Although hypodontia was observed more frequently in females, the difference in both sexes was not statistically significant. Hyperdontia was more common in males (8.6%) than in females (6.9%), with no statistically significant difference. Conclusion: The frequency of tooth number anomalies in patients who applied to our faculty was 5.14%. Panoramic radiographs taken at the first examination and routine controls are of great importance in the early diagnosis and treatment of congenital tooth number anomalies. If diagnosed early, alternative treatment methods can be planned and applied in a multidisciplinary approach to create an esthetic and functional tooth structure.

Reconsideration of Leeway Space Calculated Using Models from Same Patients at Different Growth Stages.

In this study, original leeway space was determined using plaster models prepared from the same individuals over successive years and compared with that reported in an earlier study. The plaster models used for measurement were prepared from a normal dentition group comprising 64 patients and a crowded dentition group comprising 29. The mesiodistal crown width of the deciduous canines, deciduous first molars, and deciduous second molars, as well as that of the canines, first premolars, and second premolars was measured. Leeway space was then calculated and the results compared with that previously reported. The average maxillary and mandibular leeway spaces calculated in the same individuals were 1.46 and 2.66 mm, respectively, whereas those calculated from data collected from different individuals were 0.89 and 2.83 mm, respectively. No direct statistical comparison of leeway space between this and the earlier report was possible. The present results did indicate, however, that it was larger in the maxilla than previously reported. A larger leeway space is advantageous for the normal arrangement of the permanent teeth. While the mesiodistal crown width of some of the lateral segment teeth in the present study was significantly larger in boys than in girls, no significant difference was observed in leeway space between sexes. The mesiodistal width was larger in multiple permanent teeth such as canines in the crowded dentition group, and this difference was significant in boys. On the other hand, no difference was observed in mesiodistal width in the deciduous teeth between the two groups. These results showed a tendency toward larger teeth and less leeway space in the permanent dentition in the crowded dentition group, which may have been a factor in why such crowding occurred.

Recurrent Epistaxis due to Bizarre Finding of Supernumerary Nasal Tooth

A supernumerary tooth is an additional tooth that erupted more than the normal dentition. A rarer form of a supernumerary tooth is when it erupted ectopically into the nasal cavity. Since childhood, this case report describes a 32-year-old male patient with recurrent mild nasal bleeding from his left nostril. It was never investigated seriously as the bleeding was mild and infrequent. After he was recently referred to our centre, a thorough Ear, Nose, and Throat examination was done. Direct vision with Hopkins zero-degree rigid endoscope and orthopantomogram computed tomography confirmed the provisional diagnosis of a supernumerary nasal tooth. The patient was offered surgical extraction of the tooth under general anesthesia. He denied the surgery and decided to have regular follow up. He is maintaining good health without worsening the symptoms.

Solitary impacted supernumerary tooth nudging the nasal cavity

Mesiodens is the most frequent type of supernumerary tooth, found in the central position of the upper or lower jaw. It presents in between the central incisors either erupted or impacted. Supernumerary teeth are developmental variations characterized by extra teeth besides the normal dentition. This condition is referred to as hyperdontia. The diagnosis of mesiodens is usually an accidental finding through a radiograph, which was intended for investigation of the neighboring teeth. Early diagnosis and prompt treatment are necessary for prevention of deleterious effects on the surrounding dentoalveolar structures. This case report describes the diagnosis and management of an undiagnosed inverted mesiodens along with a palatally impacted maxillary canine in a patient undergoing orthodontic treatment.

Assessment of Age-Related Changes on Masticatory Function in a Population with Normal Dentition

This study aimed to investigate the influence of changes in age-related physiological muscular and dental factors on masticatory function. This study was conducted in 211 healthy participants divided into four different age groups: 20–45 years (Gr1); 45–60 years (Gr2); 61–70 years (Gr3); and ≥71 years (Gr4). For objective evaluation of masticatory function, the masticatory performance, bite force, posterior bite area (PBA), functional tooth units (FTUs), the number of remaining teeth, tongue pressure, masseter muscle thickness (MMT), and handgrip strength were examined. Food intake ability (FIA) and the Oral Health Impact Profile-14 score were assessed subjectively using questionnaires. A significant decrease in the number of remaining teeth, FTUs, handgrip strength, and FIA was found in Gr4, and a significant decrease in the tongue pressure, PBA, and bite force was found in those aged ≥61 years. In groups 1 and 3, an association of the PBA with masticatory performance was observed. However, there was no significant decreasing trend in the MMT with respect to masticatory performance with aging. With sufficient FTUs and posterior tooth support, although age-dependent decreases in the bite force, tongue pressure and handgrip strength were observed, masticatory performance was maintained. Establishing the PBA by improving occlusion through dental treatment is thought to be important for masticatory function.

Skeletal class II malocclusion caused by mouth breathing in a pediatric patient undergoing treatment by interceptive guidance of occlusion.

A 7-year 10-month-old boy was evaluated for mouth breathing and snoring habits. Examination revealed soft convex tissues, maxillary protrusion, mandibular retrusion, and a class II sagittal osteofascial pattern. The patient failed a water holding test. He was clinically diagnosed with skeletal class II malocclusion caused by mouth breathing. Under interceptive guidance of occlusion (iGo), the malocclusion improved with fixed maxillary expansion using functional appliances and interventional treatment of mouth breathing by lip closure exercises. These treatments enabled the patient to gradually return to nasal breathing and guided him to develop physiological occlusion for a coordinated jaw-to-jaw relation. At the 5-year 2-month post-correction follow-up visit (at the age of 13 years), the patient had stable occlusion, a coordinated osteofascial pattern, and normal dentition, periodontium, and temporomandibular joints.

Epidemiology of Supernumerary Teeth in 5000 Radiography Films: Investigation of Patients Referring to the Clinics of Ardabil in 2015-2020.

Background Supernumerary tooth is defined as any extra tooth or odontogenic structure that is formed on normal dentition. Supernumerary teeth cause such problems as deficiency in tooth growth, ectopic growth, displacement, crowding, diastema, odontogenic cyst formation, decay of the adjacent tooth, malocclusion, and esthetic problems. This study was conducted aiming at determining epidemiology of supernumerary teeth in Ardabil city in 2020. Materials & Methods. In this retrospective descriptive analytical study, 5000 panoramic radiographs of patients referring to Rad and Baser Oral and Maxillofacial Radiology Centers were selected through multistage sampling method during 2015–2020. The data were collected by checklist and analyzed with using SPSS-21 and chi-squared, Fisher, and one-way ANOVA tests with a significance level less than 5%. Results The prevalence of supernumerary teeth was estimated as 1.06% (n = 53), and no significant difference between the males and females was seen. Most supernumerary teeth were found in the distomolar (44.1%) and parapremolar (29.4%) locations. The majority of supernumerary teeth were present in the maxilla (73.5%) and were impacted (77.9%) and unilateral (71.7%). The number of supernumerary teeth was 68 cases and majority of patients (86.8%) had one supernumerary tooth. Conclusion Supernumerary tooth in this study had a high prevalence compared to similar studies, and unlike most previous studies, the most common type of supernumerary tooth was distomolar. Early diagnosis and proper medical planning are essential for managing supernumerary teeth.

Results of orthodontic treatment of a child with asymmetrical micrognathia and the congenital mandibular condylar hyperplasia

Aim. To analyze the results of orthodontic treatment of a child with asymmetrical micrognathia and mandiblar condylar hyperplasia.
 Methods. The configuration of a face in the photos was evaluated and diagnostic models of the jaws were analyzed by using the Ponts and Korkhaus methods in treatment dynamics. The physiological status of bone tissue, temporomandibular joints and teeth was studied by using orthopantomography and computed tomography. Functional disorders were detected by using special tests, including EschlerBittner's test and Ilyina-Markosyans test. Orthodontic treatment and stimulation of mandibular growth in the mixed dentition stage were undertaken with the single jaw removable appliances and the appliance improved by us for correction of the distal occlusion. The Damon Q bracket system with archwires was used in permanent dentition period.
 Results. The child's convex facial profile was typical for distal occlusion and micrognathia. The facial asymmetry, increasing with mouth opening, and a decrease in mandibular range of motion indicated lesion of the right temporomandibular joint. The right condyle was enlarged on the orthopantomogram. The computed tomography showed that it was asymmetrically enlarged and had a cellular structure. There was detected asymmetric micrognathia. The comprehensive rehabilitation plan included orthodontic treatment, myotherapy, speech therapy, mechanotherapy. The use of removable orthodontic appliances led to the normal size of the dentition and their relation, significantly reduced functional disorders and improved facial aesthetics. Five years after completion of orthodontic treatment, the physiological occlusion and amplitude of the mandibular movements remained, but the right mandibular angle was flattened.
 Conclusion. The comprehensive rehabilitation of a child with asymmetrical micrognathia and mandibular condylar hyperplasia started in mixed dentition stage provided conditions for the formation of normal permanent dentition and the improvement of functional disorders and facial aesthetics; our results allow us to suggest the positive effect of our tactics for treatment of the patient.

Evaluation of Dental Crowding and Spacing in Relation to Tooth Size and Arch Dimensions in a Sample of Sudanese Adults

This study aimed to compare tooth size and arch dimensions between normal, crowded, and spaced groups in a Sudanese sample. A sample of 312 university students, were selected and divided into normal, crowded, and spaced groups. Each group included 104 students with equal males to females ratios. Age was ranged from 16 to 26 years. Mesiodistal (MD) tooth width of all teeth (except molars), arch perimeters, and dimension at the level of intercanine, interpremolar, and intermolar were measured for each group. ANOVA and student t-test were performed for the comparison between groups. The MD dimensions of all teeth are greater in crowded arches as compared to the teeth in normal dental arches, except for the width of the maxillary, left second premolar in females, and mandibular left second premolar in male. Spaced arches were presented with significantly smaller MD width in all teeth when compared to normal arches, except for the width of maxillary right second premolar, maxillary left first premolar, mandibular right and left second premolars in female, and maxillary right second premolar in male. Crowded arches exhibit the largest total tooth material followed by normal and spaced dentition. Spaced arches show the widest arch dimension and perimeters followed by normal and crowded dentitions. Both tooth size and arch dimensions contribute to dental crowding and spacing. Since the size of the teeth and dental arches affect the space availability of the dentition. These factors should be considered in the initial stages of orthodontic treatment planning to avoid compromised treatment outcomes.

Articulatory Evaluation Of Lingua Palatal Sounds In Denture Wearers – Pre And Post Comparison

Speech is an autonomous and unconscious activity. Its production involves a combination of phonation and articulation. Thus the aim of the study is to evaluate and compare linguo palatal sounds /ţ/, /d/, /tᶴ^/and /ᶴ^/ in three different groups like Group A individual with conventional complete dentures without palatine rugae, group B individual with conventional complete dentures with palatine rugae and Group C normal dentition individuals. A total of 20 individuals completely edentulous were selected in the age range of 50 to 65 years for the study. Control group consisted of10 individuals, with complete natural dentition in the same age group.4 Linguo-palatal phonemes in Kannada like /ţ/, /d/, /tᶴ^/and /ᶴ^/ were considered for the study and the target phonemes were identified in the initial and medial position of words of Kannada Articulation Test. The speech samples with target phonemes were analysed perceptually and acoustically by SLP software. Spectral parameters and temporal parameters were better in with palatal rugae denture than compared to without palatal rugae. Perceptual analysis reports showed many substitution errors with a conventional denture. To summarize, with customized rugae denture speech was clearer. To conclude, speech characteristic will be better after denture insertion compared to the edentulous stage.

A Teenage Boy with Right Forehead Swelling Following Trauma to the Head.

1. Aviva P. Aiden, MD, PhD*,†,‡ 2. McKenna E. Boyd, MS§ 3. John M. Carey, MD* 4. Shabana Yusuf, MD, MEd* 1. *Division of Pediatrics Emergency Medicine, Department of Pediatrics, 2. †Department of Molecular & Human Genetics, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX; 3. ‡Department of Bioengineering, Rice University, Houston, TX; 4. §Office of Student Affairs, Baylor College of Medicine, Houston, TX 1. Address correspondence to Shabana Yusuf, MD, MEd, Associate Professor of Pediatrics, Division of Pediatrics Emergency Medicine, Department of Pediatrics, Baylor College of Medicine and Texas Children’s Hospital, 6621 Fannin St A2210, Houston, TX 77030-2399. E-mail: syusuf{at}bcm.edu A 15-year-old boy presented to the emergency department (ED) with headache and swelling to his right forehead after a fall. The fall was unwitnessed, but the patient reports he hit his head and briefly lost consciousness. It was unclear if the patient had a syncopal event leading to the fall, or had a loss of consciousness due to the head injury resulting from the fall. On review of systems, he reported a headache that had started after the fall earlier that day, and nasal congestion with rhinorrhea for the past several days. Almost 2 weeks before, he had a headache which lasted for 1 day. The remainder of the review of systems was negative. The patient reported a vague history of a cardiac problem, and the patient’s mother reported that he was supposed to avoid sports, but had not been evaluated by a cardiologist and had not been prescribed any medications. No records were available regarding this medical history, and the patient and parent were unable to elaborate further. There was no family history of congenital heart disease, sudden death, or arrhythmias. On arrival to the ED, he was febrile to 102°F (38.9°C) and tachycardic at 118 beats/min. On physical examination, he was noted to have tender right frontal scalp swelling without fluctuance. He had nasal congestion but no other facial tenderness and normal dentition. His mental status, neurological examination, and the remainder of his physical examination including his cardiac and lung examination were all normal. Evaluation with noncontrast computed tomography (CT) scan of the head revealed “paranasal sinus disease with fluid levels in the frontal …

Comparison of Tooth Widths, Arch Widths and Arch Lengths in Class-I Normal Dentition to Class-I and II Crowded Dentitions

Background and Objective:Dental study casts play a vital role in the diagnosis and treatment planning of various orthodontic cases. This study was carried out to compare the tooth widths, arch widths, and arch lengths in Class-I normal dentition to those in Class-I and Class-II crowded dentition in an effort to improve treatment planning and to eventually reduce treatment duration.Methods:Total 170 patients, 12 to 40 years of age with a complete set of permanent teeth till 1st molars; who presented to the Orthodontics Department at Armed Forces Institute of Dentistry (A.F.I.D), Rawalpindi from Sep 2019 to Feb 2020, were included in the study. Non-probability purposive method of sampling was used. The dental casts obtained were used to measure tooth widths, arch widths, and arch lengths. Subjects were classified into Class-I normal and Class-I and Class-II crowded occlusion and comparison of the sum of tooth widths, arch widths, and arch length discrepancies were determined among the three occlusion groups. Data was analyzed in SPSS version 21 and independent samples t-test was used to differentiate the variables of interest.Results:Out of 170 subjects, 73 (42.9%) subjects had Class-I normal occlusion while 97 (57%) had Class-I and Class-II crowded occlusions. No statistical difference was found between the occlusal groups with regard to the sum of tooth widths, inter-canine widths, inter-first premolar widths, inter-second premolar widths and inter-molar widths. However, a remarkable difference was observed between the occlusal groups with respect to arch perimeters and arch length discrepancies (p = 0.000 and 0.000 respectively).Conclusions:Results of the current study indicate that crowding of teeth occurs as a consequence of decreased arch perimeters which may lead to increased arch length discrepancies. However, no prominent difference was noticed in the sum of tooth widths and arch widths among different occlusal groups.

Awareness of intraoral photography among dental students

Precise shade matching is one of the most testing parts of dental restorations and stylish dentistry. Because of the incredible assortment of regular tooth shading accomplishing a nearby shade match of a fake rebuilding with normal dentition is a mind-boggling process. Photography has been utilized for a long time trying to improve correspondence among dental specialists and dental professionals. The aim of the study was to evaluate the awareness of intra oral photography among dental graduates. This was a questionnaire based cross-sectional type of study comprising 100 dental college students in Chennai. A self-designed questionnaire contains 10 questions based on the knowledge, awareness on intra oral photography among dental college students. Questionnaires were circulated through an online website survey planet. After the responses were received from 100 participants, data were collected and analysed.76% of dental graduates stated the intraoral photographs were taken in automatic mode and only 24% of dental graduates set the camera in manual mode to capture the intraoral image. 97% of Dental graduates use the grey card as the contrast to the subject taken, and 98% of dental graduates are unaware about the use of white balance in-camera setting, and 1% of dental graduates are only aware of the 18% grey card and the use of grey card to pre-set the white balance. 100% of the people recommend the intraoral photography courses included in the dental course. 33% of the graduates have attended the photography courses to learn the technique to capture the intraoral photographs. The awareness of intraoral photography among dental students is moderately adequate. More than 30 of the graduates have attended the photography courses to learn the technique to capture the intraoral photographs. The documentation of the clinical cases is being encouraged in dental schools, but the proper training for the intraoral photographs is not being met. 100% of graduates recommend the photography courses be included in the dental curriculum.

Cluster of cases of congenital feline goitrous hypothyroidism in a single hospital.

To describe the clinicopathological findings and outcomes of cases of feline congenital hypothyroidism diagnosed in a single veterinary hospital in Santiago, Chile. Medical records were searched for cases of congenital hypothyroidism over an 18-month period. Inclusion criteria were a diagnosis of congenital hypothyroidism based on consistent historical and clinical findings, a low or low-normal serum total T4 and elevated serum canine TSH (cTSH). Six unrelated cats ranging in age from 4 to 19 months met the inclusion criteria. The most common historical signs were small stature and lethargy. All cats had disproportionate dwarfism, delayed tooth eruption, retained deciduous teeth, bilateral palpable goitres and low rectal temperatures. Other findings were bradycardia, obesity, poor hair coat and focal alopecia on the ventral aspects of the elbows and hocks. In all cases, cTSH was markedly elevated. Sequential changes noted after the initiation of therapy included normal T4 after 6 weeks, improved hair coat and increased physical activity by 8 weeks, normal cTSH by 10 weeks and normal physical appearance and dentition after 4months. Goitres shrank markedly but remained palpable. Hypothyroidism was well managed clinically in all cases 2 years after diagnosis except for one cat that died of unrelated causes. This is the first report to describe a cluster of congenital hypothyroidism cases in non-related cats that were presented over a short period of time. Growth defects resolve with treatment, even in cats diagnosed after puberty. Larger, prospective multi-centre studies are warranted to determine the incidence of congenital hypothyroidism in cats.

Reawakening of Ancestral Dental Potential as a Mechanism to Explain Dental Pathologies.

During evolution, there has been a trend to reduce both the number of teeth and the location where they are found within the oral cavity. In mammals, the formation of teeth is restricted to a horseshoe band of odontogenic tissue, creating a single dental arch on the top and bottom of the jaw. Additional teeth and structures containing dental tissue, such as odontogenic tumors or cysts, can appear as pathologies. These tooth-like structures can be associated with the normal dentition, appearing within the dental arch, or in nondental areas. The etiology of these pathologies is not well elucidated. Reawakening of the potential to form teeth in different parts of the oral cavity could explain the origin of dental pathologies outside the dental arch, thus such pathologies are a consequence of our evolutionary history. In this review, we look at the changing pattern of tooth formation within the oral cavity during vertebrate evolution, the potential to form additional tooth-like structures in mammals, and discuss how this knowledge shapes our understanding of dental pathologies in humans.

Are occlusal contact area asymmetry and masticatory muscle activity asymmetry related in adults with normal dentition?

ABSTRACTObjective: To examine whether asymmetry in the area of occlusal contact and near contact (ACNC) and asymmetrical masticatory muscle electromyographic activity are correlated in healthy dentate adults.Methods: Ninety-one healthy subjects with full dentition were included. Seven levels of ACNC were registered, and the asymmetry indexes (AsI) for each level of ACNC (AsI-ACNC) were determined. Surface EMG was used to record bilateral anterior temporalis activity and masseter muscle activity. The AsI for the anterior temporalis, masseter, and the combination of both muscles were calculated.Results: Pearson’s correlation analysis revealed all levels of AsI-ACNC were significantly, negatively correlated with the AsI of the anterior temporalis and the combination of both muscles (p < 0.05), but not the AsI of the masseter muscle (p > 0.05).Conclusion: The side with greater ACNC has significantly lower anterior temporalis activity and combined anterior temporalis and masseter muscle activity on the ipsilateral side.

SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta

Background: Osteogenesis imperfecta (OI) is characterized by bone fragility and increased fracture susceptibility. Most mutations occur in COL1A1 and COL1A2 genes. Rarely, mutations in BMP1 have been reported in association with OI type XIII. Disease severity is generally more severe when the mutation affects both gene products encoded by BMP1 that serve as procollagenases: bone morphogenic protein 1 and mammalian tolloid (mTLD) [1]. Clinical Case: A 7-year-old Hispanic boy, with speech and gross motor delays, sustained five bilateral tibial fractures with minimal trauma since age 2.5 years. At age 6 years, he developed severe back pain after a minor fall. Diffuse spinal osteopenia and multiple vertebral compression fractures (VCF) at T9, L1, L3 were identified radiographically, with progressive vertebral height loss in the ensuing 9 months. Fatigue was reported after walking >10 min, with difficulty running and climbing stairs. There was no family history of musculoskeletal disorders.Stature was consistently between 10-15th% for age. Subtle facial dysmorphism included micrognathia and small chin, with patchy blue-gray sclerae, and normal dentition. The lumbar spine was tender to percussion. Gait was slow and antalgic with external rotation of the right hip.Laboratory evaluation revealed normal serum calcium, iPTH, magnesium, phosphate, 25-hydroxyvitamin D and alkaline phosphatase for age. P1NP was slightly high (193 µg/L, 30-110 µg/L) and CTX was slightly low (554 pg/mL, n: 574-1849 pg/mL), the latter being atypical for OI. Total hip BMD (adjusted for height Z-score) was normal (Z-score = 1.76) and adjusted femoral neck BMD was high (Z-score = 2.67). VCFs precluded assessment of lumbar spine BMD. Genomic analysis revealed a homozygous missense mutation in exon 4 of BMP1 resulting in an amino acid substitution (c. C505T; p.Arg169Cys) in both the bone morphogenetic protein 1 and mTLD gene products of BMP1. The mutation is predicted to be damaging to both proteins, and associated with this rare form of OI. Conclusion: We report a novel homozygous mutation in BMP1 identified in a child with autosomal recessive OI. Unlike most forms of OI, patients with type XIII often have normal or increased BMD [1], making a correlation between BMD and fracture risk difficult. While bisphosphonates (BP) may help reduce recurrent fractures and provide symptomatic relief, the broad phenotypic spectrum and concern for further increasing BMD complicate management. A high resolution peripheral quantitative CT scan to assess bone microarchitecture and quality may aid in the decision of BP therapy. As evidence is limited on the effectiveness of BP in this rare form of OI, it is important to consider each case individually.1.Sangsin, A., et al., Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report. BMC Med Genet, 2017. 18(1): p. 25.

Iatrogenic Factors and Oral Health

The periodontium must be in a state of health for the effective functioning of normal dentition. Etiology of diseases related to periodontium may be iatrogenic i.e. those diseases that result from careless procedure done by a physician or a dentist. This article discusses iatrogenic factors affecting oral health.