Prevalence rates for ectodermal dysplasia syndromes.

BACKGROUND: Ectodermal dysplasias (EDs) are a heterogeneous group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. There are currently 49 recognized EDs with molecularly confirmed etiology. The EDs are very rare disorders, individually and in aggregate. Very little is published regarding the prevalence of these rare disorders. As a result of the genomics revolution, rare diseases have emerged as a global health priority. The various disabilities arising from rare disorders, as well as diagnostic and treatment uncertainty, have been demonstrated to have detrimental effects on the health, psychosocial, and economic aspects of families affected by rare disorders. Contemporary research methodologies and databases can address what have been historic challenges encountered when conducting research on rare diseases. OBJECTIVE: In this study, we aim to ascertain period prevalence rates for several of the more common ectodermal dysplasia syndromes, by querying a large multicenter database of electronic health records, Oracle Real-World Data. METHODS: For each of the included ectodermal dysplasia syndromes a clinical definition was developed by a committee of international experts with interests in EDs. The clinical definitions were based upon a combination of clinical features and designated by ICD-9 and ICD-10 codes. The January 2023 version of the Oracle Real-World Data database was queried for medical records that coincided with the clinical definitions. For our study, there were 64,523,460 individual medical records queried. RESULTS: Period prevalence rates were calculated for the following ED disorders: hypohidrotic ectodermal dysplasia, found to be 2.99 per 100,000; ectodermal dysplasia and immunodeficiency 1, 0.23 per 100,000; Clouston syndrome, 0.15 per 100,000; ectrodactyly ectodermal dysplasia and cleft lip/palate syndrome, 0.61 per 100,000; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, 0.36 per 100,000; focal dermal hypoplasia, 0.10 per 100,000; and incontinentia pigmenti, 0.88 per 100,000. CONCLUSION: This study established estimated period prevalence rates for several of the ectodermal dysplasia syndromes, and it demonstrated the feasibility of utilizing large multicenter databases of electronic health records, such as Oracle Real World Data.

Management of a bulbous blunderbuss maxillary central incisor with one root and three canals in a patient with cleft lip and palate.

Unique anatomical deviations in canal structure are rare in anterior teeth, especially central incisors, and thus risk being overlooked. For successful intervention, a meticulous diagnostic procedure and treatment plan, significantly aided by cone-beam computed tomography (CBCT), are crucial. The case at hand explores the management of a maxillary left central incisor in a cleft palate patient, characterized by multiple developmental lobes, a bulbous crown, and an atypical root anatomy. The primary symptom was pain, accompanied by a history of trauma at age 8 years and ensuing tooth discoloration. Initial evaluations, augmented by CBCT, revealed pulpal necrosis in a single-rooted tooth with three distinct canals. Initial clinical examination was supplemented by electrical pulp testing, RadioVisioGraphy (RVG), and CBCT, after which the root canal therapy was initiated. Informed consent was obtained from the patient. The access cavity preparation resulted in a three-orifice cavity. Subsequently, the canals were enlarged and sufficiently debrided. Calcium-hydroxide was applied for 2 weeks before the commencement of apexification and obturation, followed by esthetic rehabilitation. This case highlights the importance of recognizing rare anatomical variations in anterior teeth and demonstrates the invaluable role of CBCT in both diagnosing and managing such complexities.

invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.

Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the same partial inverted duplication of the long arm of chromosome 8 [invdup(8)(q24.21q24.21)] of 17.18 Mb, showing different clinical manifestations: microcephaly, dorsal hypertrichosis, seizures and neuropsychomotor development delay in the child, and a cleft lip/palate, down-slanted palpebral fissures and learning disabilities in the mother. The deleterious outcome, in general, is reflected by the gain or loss of genetic material. However, discrepancies among the clinical manifestations raise some concerns about the genomic configuration within the chromosome and other genetic modifiers. With that in mind, we also performed a literature review of research published in the last 20 years about the duplication of the same, or close, chromosome region, seeking the elucidation of at least some relevant clinical features.

Midface asymmetry in non-syndromic unilateral cleft lip-palate: a retrospective cbct analysis.

Purpose: The aim of this study was to determine the relationship between the zygomaticomaxillary complex (ZMC) and infraorbital foramen region (IFR) with facial symmetry in patients with unilateral cleft lip and palate (UCLP) using cone beam computed tomography (CBCT). Materials and methods: In this retrospective study, CBCT images of 30 non-syndromic UCLP patients were included, along with 30 age- and sex-matched control individuals. ZMC symmetry was evaluated in the axial section by comparing the right and left sides. Similarly, symmetry in the IFR was assessed in the coronal section. The significance level was set at p<0.05 for statistical analysis. Results: The study group comprised 12 female and 18 male patients, with ages ranging from 10 to 18 years (mean age 14.1 years). Both ZMC and IFR measurements were significantly lower on the cleft sides of the study group compared to both the non-cleft sides of UCLP patients and the control group (p<0.001, p=0.022, and p=0.036, respectively). Furthermore, IFR measurements were significantly lower in the control group compared to the non-cleft sides of the study group (p=0.04). Conclusion: This study demonstrated that individuals with UCLP exhibit asymmetry in both the ZMC and the IFR. These findings suggest a negative impact on facial aesthetics.

Improving Craniofacial Team Collaboration: A Multicenter Interview Study of Effective Team Meetings.

Objective: In the USA, the American Cleft Palate Association-Craniofacial Association (ACPA-CPF) specifies guidelines to ensure craniofacial teams function in a multidisciplinary fashion to provide care in a sequence that mirrors the patient's needs. Among these guidelines is the expectation that teams hold regular multidisciplinary team meetings to discuss patient care. The purpose of this study was to identify factors that contribute to optimal team functioning during these meetings. The impact of the virtual format on meetings was also evaluated. Design: One-hour semi-structured interviews of craniofacial team members, queried on current and ideal team meetings, were conducted from December 2020 - January 2021. Interviews were recorded, transcribed, and coded to identify common themes until thematic saturation was achieved. Setting/Participants: Sixteen team members from three major American craniofacial centers were interviewed virtually. Results: Three major categories were identified as integral to successful meetings: (1) meeting content, (2) meeting processes, and (3) team dynamics. Within these categories are several factors that participants reported as important to optimize their multidisciplinary meetings: key content for discussions, integration of patient perspective, recognition of collaboration in determining proper sequence of treatments, an attentive discussion leader promoting equitable discussions, managing absences, and team diversity. Participants also identified benefits and pitfalls of hosting meetings in the virtual setting, including lack of engagement and awkward communication. Conclusion: Diverse groups of disciplines are expected to come together during craniofacial multidisciplinary meetings to formulate intricate care plans for complex patients. In this study, craniofacial team members have identified several key factors to optimize these meetings. The research group used these factors to propose a self-evaluation instrument for meeting quality improvement, provided in printable format. Further studies should evaluate how implementation of these factors affects meetings and ultimately guides patient care.

Effect of facial and nasolabial asymmetry on perceived facial esthetics in children with non-syndromic cleft lip and palate.

OBJECTIVE: The aim of the present study was to objectively assess the degree of residual facial asymmetry after primary treatment of non-syndromic unilateral cleft lip and palate (UCLP) in children and to correlate it with subjective ratings of facial appearance. MATERIALS AND METHODS: Stereophotometry was used to record the faces of 89 children with UCLP for comparison of cleft and non-cleft sides up to 5 years after primary cleft closure. Root mean square values were calculated to measure the difference between the shape of cleft and non-cleft sides of the face and were compared to controls without a cleft lip. The Asher-McDade Aesthetic Index (AMAI) was used for subjective rating of the nasolabial area through 12 laypersons. RESULTS: Children with a cleft lip (CL) showed no significant difference in RMS values compared to controls. Significant differences occurred when the evaluation was limited to the nasolabial area, however only in patients with cleft lip alveolus (CLA) and cleft lip palate (CLAP)(p < 0.001). In contrast, subjective ratings showed significantly higher values for all three cleft severity groups (CL, CLA, CLAP) compared to controls (p < 0.001). There was a non-linear correlation between the RMS (root mean square) values and the AMAI score. CONCLUSIONS: Even non-significant discrete objective deviations from facial symmetry in children after primary closure of UCLP are vigilantly registered in subjective ratings and implemented in the judgement of facial appearance. CLINICAL RELEVANCE: 3D stereophotometry is a usefull tool in monitoring asymmetry in patients with a cleft.

Determination of safety margin of nasal septum osteotomy for sphenoid sinus in cleft lip and palate patients.

BACKGROUND: Nasal septum osteotomy is used for separating the nasal septum and maxilla during a Le Fort I osteotomy. If this osteotomy is applied too high or is tilted into the nasal cavity, the sphenoid sinus and various adjacent vital structures may be damaged, and serious bleeding, neurological complications, blindness or even death may occur. The aim of this study is to determine the safety margin of the nasal septum osteotomy for sphenoid sinus during the Le Fort I surgery in cleft lip and palate (CLP) patients. METHODS: Twenty cleft lip and palate (the CLP group) and 20 healthy individuals (the control group) were included in this study. Three values (two lines and an angle) were measured by cone beam computed tomography (CBCT). The first line is the line passing through the junction of the spina nasalis anterior point and the lower point of the perpendicular lamina of the palatine bone. The undersired line is the line passing through the junction of the spina nasalis anterior point and the lower anterior border of the base of the sphenoid sinus. The osteotomy angle is the angle between these two lines. RESULTS: In the control group; a surgical line of 44.11-61.14 mm (mean 51.91 ± 4.32), an undesired line of 52.48-69.58 mm (mean 59.14 ± 5.08) and an angle of 18.22-27.270 (mean 22.66 ± 2.55) were found, while in the CLP group, a surgical line of 34.53-51.16 mm (mean 43.38 ± 4.79), an undesired line of 46.86-61.35 mm (mean 55.02 ± 3.24) and an angle of 17.60-28.810 (mean 22.60 ± 2.81) were found. CONCLUSIONS: Although the angle to the sphenoid sinus was not significantly affected by CLP, careful planning and consideration of these anatomical differences are crucial to prevent complications and ensure the safety of Le Fort I surgery in CLP patients. Further research with larger sample sizes and subgroup analysis of unilateral and bilateral CLP cases is needed to improve our understanding of these anatomical variations and improve surgical approaches to individuals with CLP undergoing orthognathic procedures.

Characteristics of Factors Influencing the Occurrence of Cleft Lip and/or Palate: A Case Analysis and Literature Review.

INTRODUCTION: Cleft lip with or without cleft palate (CL/P) stands as the most common congenital facial anomaly, stemming from multifactorial causes. OBJECTIVE: Our study aimed to ascertain the prevalence and characteristics of cleft palates, identify associated risk factors to inform prevention and prenatal detection for early intervention, and assess postoperative rehabilitation protocols for cleft palates. DESIGN: This study employs a retrospective descriptive and clinical approach. PATIENTS: The study includes 103 children with cleft palates treated at the Department of Head and Neck Surgery Clinic for Children and Young Adults, Department of Clinical Pediatrics, University of Warmia and Mazury. METHODS: We conducted a thorough evaluation of records, considering variables such as sex, cleft type, maternal occupation, parental education, and family history of clefts. Data analysis was carried out using R software version GPL-3 and ordinal logistic regression analyses. RESULTS: Notably, children born to mothers who experienced significant stress during pregnancy exhibited a 9.4-fold increase in the odds of having bilateral cleft palates. Conversely, no substantial evidence was found to support the influence of the child's sex, birth order, body mass, maternal exposure to workplace toxins, infections, or drug toxicity on the dependent variable. CONCLUSIONS: Our findings suggest that children with parents who have a history of clefts and those with less educated mothers are more likely to develop bilateral cleft palates. Additionally, children born to mothers experiencing stress during pregnancy face an increased risk of bilateral cleft palates. It is important to note that there is a paucity of literature on rehabilitation following various cleft palate surgical techniques in children.

3D evaluation of the maxillary sinus volumes in patients with bilateral cleft lip and palate.

One of the most common congenital anomalies of the head and neck region is a cleft lip and palate. This retrospective case-control research aimed to compare the maxillary sinus volumes in individuals with bilateral cleft lip and palate (BCLP) to a non-cleft control group. The study comprised 72 participants, including 36 patients with BCLP and 36 gender and age-matched control subjects. All topographies were obtained utilizing Cone Beam Computed Tomography (CBCT) for diagnostic purposes, and 3D Dolphin software was utilized for sinus segmentation. Volumetric measurements were taken in cubic millimeters. No significant differences were found between the sex and age distributions of both groups. Additionally, there was no statistically significant difference observed between the BCLP group and the control group on the right and left sides (p > 0.05). However, the mean maxillary sinus volumes of BCLP patients (8014.26 ± 2841.03 mm3) were significantly lower than those of the healthy control group (11,085.21 ± 3146.12 mm3) (p < 0.05). The findings of this study suggest that clinicians should be aware of the lower maxillary sinus volumes in BCLP patients when planning surgical interventions. The utilization of CBCT and sinus segmentation allowed for precise measurement of maxillary sinus volumes, contributing to the existing literature on anatomical variations in BCLP patients.

Divergent growth of the transient brain compartments in fetuses with nonsyndromic isolated clefts involving the primary and secondary palate.

Cleft lip/palate is a common orofacial malformation that often leads to speech/language difficulties as well as developmental delays in affected children, despite surgical repair. Our understanding of brain development in these children is limited. This study aimed to analyze prenatal brain development in fetuses with cleft lip/palate and controls. We examined in utero MRIs of 30 controls and 42 cleft lip/palate fetal cases and measured regional brain volumes. Cleft lip/palate was categorized into groups A (cleft lip or alveolus) and B (any combination of clefts involving the primary and secondary palates). Using a repeated-measures regression model with relative brain hemisphere volumes (%), and after adjusting for multiple comparisons, we did not identify significant differences in regional brain growth between group A and controls. Group B clefts had significantly slower weekly cerebellar growth compared with controls. We also observed divergent brain growth in transient brain structures (cortical plate, subplate, ganglionic eminence) within group B clefts, depending on severity (unilateral or bilateral) and defect location (hemisphere ipsilateral or contralateral to the defect). Further research is needed to explore the association between regional fetal brain growth and cleft lip/palate severity, with the potential to inform early neurodevelopmental biomarkers and personalized diagnostics.

Prenatal incidence of cleft lip/palate and cocaine abuse in parents: a systematic review and meta-analysis.

BACKGROUND: The study aimed to investigate the association between maternal cocaine abuse during pregnancy and the prevalence of cleft lip/palate (CL/P) in offspring, synthesizing existing evidence through a systematic review and meta-analysis. CL/P is a congenital craniofacial anomaly with complex etiology, and prior research has suggested potential links between maternal cocaine use and CL/P. However, these associations remain inconclusive. METHODS: A comprehensive literature search was conducted to identify relevant studies published up to the study's cutoff date in September 2021. Several databases were systematically searched using predefined search terms. Inclusion criteria were set to encompass studies reporting on the prevalence of CL/P in infants born to mothers with a history of cocaine use during pregnancy, with a comparison group of non-cocaine-using mothers. Data were extracted, and a meta-analysis was performed using a random-effects model to calculate pooled odds ratios (OR) and relative risks (RR) with their respective 95% confidence intervals (CI). RESULTS: The review included data from 4 studies that met the inclusion criteria. The combined OR from two studies was 0.05 (95% CI: 0.00, 4.41), which does not suggest a statistically significant association between prenatal cocaine exposure and the incidence of CL/P due to the confidence interval crossing the null value. Additionally, the combined RR was 0.17 (95% CI: 0.04, 0.66), indicating a statistically significant decrease in the risk of CL/P associated with prenatal cocaine exposure. These results, with an OR that is not statistically significant and an RR suggesting decreased risk, should be interpreted with caution due to considerable heterogeneity and variability among the included studies' findings. Further research is needed to clarify these associations. CONCLUSION: The findings from this systematic review and meta-analysis suggest that maternal cocaine use during pregnancy is not a statistically significant independent risk factor for the development of CL/P in offspring. These results underscore the multifactorial nature of CL/P etiology and emphasize the importance of considering other genetic, environmental, and nutritional factors in understanding the condition's origins. While the study provides important insights, limitations such as data heterogeneity and potential confounders should be acknowledged. Future research should adopt rigorous study designs and explore a broader range of potential risk factors to comprehensively elucidate CL/P development.

Grainyhead-like 2 interacts with noggin to regulate tissue fusion in mouse.

Defective tissue fusion during mammalian embryogenesis results in congenital anomalies, such as exencephaly, spina bifida and cleft lip and/or palate. The highly conserved transcription factor grainyhead-like 2 (Grhl2) is a crucial regulator of tissue fusion, with mouse models lacking GRHL2 function presenting with a fully penetrant open cranial neural tube, facial and abdominal clefting (abdominoschisis), and an open posterior neuropore. Here, we show that GRHL2 interacts with the soluble morphogen protein and bone morphogenetic protein (BMP) inhibitor noggin (NOG) to impact tissue fusion during development. The maxillary prominence epithelium in embryos lacking Grhl2 shows substantial morphological abnormalities and significant upregulation of NOG expression, together with aberrantly distributed pSMAD5-positive cells within the neural crest cell-derived maxillary prominence mesenchyme, indicative of disrupted BMP signalling. Reducing this elevated NOG expression (by generating Grhl2-/-;Nog+/- embryos) results in delayed embryonic lethality, partial tissue fusion rescue, and restoration of tissue form within the craniofacial epithelia. These data suggest that aberrant epithelial maintenance, partially regulated by noggin-mediated regulation of BMP-SMAD pathways, may underpin tissue fusion defects in Grhl2-/- mice.

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

TP63-related disdorders broadly involve varying combinations of ectodermal dysplasia (sparse hair, hypohydrosis, tooth abnormalities, nail dysplasia), cleft lip/palate, acromelic malformation, split-hand/foot malformation/syndactyly, ankyloblepharon filiforme adnatum, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. TP63-related disorders are associated with heterozygous pathogenic variants in TP63 and include seven overlapping phenotypes; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC3), Limb-mammary syndrome (LMS), Acro-dermo-ungual-lacrimal-tooth syndrome (ADULT), Rapp-Hodgkin syndrome (RHS), Split-hand/foot malformation 4 (SHFM4), and Orofacial cleft 8. We report on five unrelated families with 8 affected individuals in which the probands presented with varying combinations of ectodermal dysplasia, cleft lip/palate, split-hand/foot malformation, lacrimal duct obstruction, and ankyloblepharon filiforme adnatum. The clinical diagnosis involved AEC syndrome (2 patients), EEC3 syndrome (2 patients), and a yet hitherto unclassified TP63-related disorder. Sanger sequence analysis of the TP63 gene was performed revealing five different variants among which four were novel and three were de novo. The identificated TP63 variants co-segregated with the other affected individuals in the families. The abnormalities of ectoderm derived structures including hair, nails, sweat glands, and teeth should alert the physician to the possibility of TP63-related disorders particularly in the presence of orofacial clefting.

A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype.

Biallelic pathogenic variants in the TTC26 gene are known to cause BRENS (biliary, renal, neurological, skeletal) syndrome, an ultra-rare autosomal recessive condition with only few patients published to date. BRENS syndrome is characterized by hexadactyly, severe neonatal cholestasis, and involvement of the brain, heart, and kidney, however the full phenotypic and genotypic spectrum is unknown. Here, we report on a previously undescribed homozygous intronic TTC26 variant (c.1006-5 T > C) in a patient showing some of the known TTC26-associated features like hexadactyly, hypopituitarism, hepatopathy, nephropathy, and congenital heart defect. Moreover, he presented with a suspected unilateral hearing loss and bilateral cleft lip-palate. The variant is considered to affect correct splicing by the loss of the canonical acceptor splice site and activation of a cryptic acceptor splice site. Hereby, our patient represents one additional patient with BRENS syndrome carrying a previously unreported TTC26 variant. Furthermore, we confirm the involvement of the pituitary gland to be a common clinical feature of the syndrome and broaden the clinical spectrum of TTC26 ciliopathy to include facial clefts and a probable hearing involvement.

Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes.

BACKGROUND/AIMS: The Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-ectodermal defect-cleft lip/palate (AEC) syndromes are rare autosomal dominant diseases caused by heterozygous mutations in the p63 gene. Patients are characterized by abnormalities of the skin, teeth, and hair and have limb defects, orofacial clefting and ectodermal dysplasia. In addition, they often show ocular surface alterations, leading to progressive corneal clouding and eventually blindness. Here, we present 8 cases describing patients affected by EEC (n = 6, with 5 sporadic and 1 familial cases) and AEC (n = 2, both sporadic cases) syndromes. We attempt to provide a description of the ocular disease progression over the years. METHODS: Clinical examinations and monitoring of ocular parameters for the assessment of limbal stem cell deficiency were constantly performed on patients between 2009 and 2023. Quantitative data and comparison with existing cases described in the literature are reported. RESULTS: The therapies supplied to patients were essential for the management of the symptoms, but unfortunately did not halt the progression of the pathology. CONCLUSIONS: A constant monitoring of the patients would help avoid the sudden worsening of symptoms. If the progression of the disease slows down, it would allow for the development of newer therapeutic strategies aimed at correcting the genetic defect.

Schematic Treatment Tree for the Presurgical Nasoalveolar Moulding of Patients with Cleft Lip and Palate.

Background: Cleft lip and palate is the most common and unfortunate congenital defect that is debilitating for both the patients and their parents. Such complex condition demands for a precise and judicious management, as its outcome can drastically influence the quality of life of the child. Aim: To provide a concise treatment algorithm or tree which might guide the clinicians and make it easier for them to opt for a better treatment option when confronting different severities and types of this defect. Material and Methods: The clinical experience at our center alongwith review of current literature is used to propose a decision making treatment tree. Discussion: For the better aesthetics, function and ease of cosmetic surgery, several presurgical procedures have been introduced including the nasoalveolar moulding (NAM) appliance, adhesive tapes with nasal elevators, Figueroa's appliance, Hotz appliance, etc. Conclusion: The schematic decision-making tree may prove beneficial to the healthcare providers specially pedodontists who frequently come across such situations to choose the best treatment option for their patients.

"Challenges and concerns faced by parents of a group of Egyptian children with cleft lip/palate: a qualitative study".

BACKGROUND: Cleft lip and palate are the most common developmental anomalies that affect the mouth and related structures. They can both affect children physiologically, socially, and functionally and lead to psychological distress in their parents. The present study aims to understand the challenges parents of cleft lip and palate patients face in Egypt, elucidate how they cope with these challenges, and assess their concerns for the future. METHODS: For the present phenomenological qualitative exploration, the parents of cleft lip and palate patients attending the cleft care clinic were invited to participate in the study through face-to-face recruitment at the clinic. An interview guide about the research question was developed to include standardized open-ended questions providing a framework for structured discussions. The interviews were audio-recorded after obtaining written informed consent from participants then collected data were transcribed for data analysis. RESULTS: Of the 12 participants, there were nine mothers and three fathers. Their children's ages ranged from 1.5 years to 19 years and had different presentations of cleft lip and palate from unilateral cleft lip to complete bilateral cleft lip and palate. Feeding difficulty was one of the main challenges encountered by the parents. At the same time, fear of being subjected to bullying was the main concern for the future of their children. Six themes were noted that were continually reported: Health & Wellbeing; Parental emotions; Parental attitudes & behaviors; Financial aspects; Relationship aspects; and Career/Education. CONCLUSIONS: There were 4 factors that directly impacted the themes, namely: the type of cleft, gender of the child, gender role of the parent, and the age of the child impacted the parental concerns and the challenges faced under the influence of sociocultural beliefs and existing support systems.

Impact of Orofacial Clefts on Oral Health Quality of Life: A Cross-sectional Survey Study in Saudi Arabia.

AIM: To evaluate the effect of facial clefts on the dental health quality of life of affected individuals, and to determine whether age and gender affect the oral health quality of life differently. MATERIALS AND METHODS: The cross-sectional survey included 50 participants (32 females and 18 males) from the northern region of Saudi Arabia, using a reliable and validated questionnaire, the Child Oral Health Impact Profile (COHIP), which measured self-reported oral health-related quality of life (OHRQoL) in children and adults using a five-point Likert scale. Statistical analysis was performed, and results were considered significant if the p-value was less than 0.05. RESULTS: The highest scores in the oral health domain were related to bad breath and reluctance in speaking or reading aloud in class within the school environment domain, with mean scores of 3.44 ± 1.3 and 3.52 ± 1.2, respectively. Most patients showed apprehension regarding necessary dental treatments (mean = 1.44 ± 0.07). The study found a non-statistically significant difference in tooth discomfort between age groups (p = 0.092), with individuals aged from 20 to 29 experiencing higher levels of discomfort than other age groups surveyed. CONCLUSION: The two topics with the highest mean scores in the oral health domain and the school environment domain were bad breath and not wanting to speak or read aloud in class. Females reported more discomfort, and there was a substantial association between gender and tooth pain/sensitivity. CLINICAL SIGNIFICANCE: Understanding the difficulties cleft patients face is crucial, as doing so will enable dentists to encourage and handle these issues more effectively.

Is caries prevalence site-specific in cleft lip and palate patients? A systematic review and meta-analysis.

Background: Previous systematic reviews indicate that there is an increased prevalence of caries in cleft patients in comparison to their healthy control group. To date, the prevalence of caries between unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP) has not been quantitatively evaluated. This review aims to include published studies that examined caries prevalence in patients with UCLP and BCLP to find out whether a quantitative difference exists in caries experience among them. Materials and Methods: Medline/PubMed, Scopus, and EBSCOhost databases were searched from inception to November 2021. The protocol was registered with PROSPERO registration no. CRD2021292425. Prevalence-based studies that evaluated caries experience using the decayed-missing-filled teeth (DMFT) index in the permanent dentition or dmft in case of primary dentition in patients with UCLP or BCLP were included in the analysis with the outcome given in mean and standard deviation. Meta-analysis was performed using a random effect model through a forest plot. An adapted version of the Newcastle-Ottawa Scale for cross-sectional studies was modified to assess the quality of included studies. Results: Three studies were included in the review. The difference in caries prevalence was statistically significant in the permanent and primary dentition which were evaluated using DMFT and dmft scores with P = 0.01 and P = 0.03, respectively. Forest plot values were obtained for permanent dentition (DMFT) and primary dentition (dmft), 0.57 (95% confidence interval [CI]: 1.03-0.11) and 0.36 (95% CI: 0.69-0.03), respectively. The result of the meta-analysis indicates that patients with BCLP have higher caries prevalence. Conclusion: The outcome of the study indicates a higher occurrence of caries in patients with BCLP than UCLP in both permanent and primary dentition.

Association of MMP2 and MMP9 gene polymorphisms with nonsyndromic cleft lip/palate in an Iranian population.

Background: Cleft lip/palate (CL/P) is a prevalent congenital disorder. Matrix metalloproteinases (MMPs) play a role in palatogenesis and have been proposed to be associated with nonsyndromic CL/P development. This study aimed to examine the association of MMP2 (rs243866) and MMP9 (rs3918242) gene polymorphism with nonsyndromic CL/P in an Iranian population. Methods: Blood samples were collected from 120 nonsyndromic CL/P patients and 140 healthy newborns in this case-control study. DNA extraction was performed by the salting-out method, and the samples underwent polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP), using Pag and SphI enzymes, for genotyping MMP2 and MMP9 gene polymorphisms. Statistical analysis was performed with SPSS 11.5. Univariate and multivariate logistic regression models were used to calculate the odds ratios and 95% confidence intervals (CIs). The level of statistical significance was set at P<0.05. Results: No significant association was found between MMP2 gene polymorphism and nonsyndromic CL/P. However, the MMP9 gene polymorphism had a significant association with nonsyndromic CL/P, with a higher prevalence of the T allele and TT genotype in the case group than the control group. Conclusion: This study indicated a potential link between MMP9 gene polymorphism and nonsyndromic CL/P in an Iranian population. Future investigations with greater sample diversity and larger sample sizes are required to obtain more comprehensive and robust evidence. In-depth analyses and studies involving different ethnic groups can further enhance our understanding of the genetic underpinnings of CL/P.