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> Disorders > Congenital Abnormality > Craniofacial Abnormalities

Craniofacial Abnormalities

Craniofacial Abnormalities are a diverse group of congenital deformities affecting the head, face, and skull.
These conditions can involve the bones, soft tissues, or both, and may result in a range of functional and aesthetic impairments.
Affected individuals may experience difficulties with breathing, swallowing, vision, hearing, and facial appearance.
Common examples include cleft lip/palate, craniosynostosis, and hemifacial microsomia.
Early diagnosis and multidisciplinary management are crucial for optimizing outcomes and improving quality of life.
Resesarchers investigating Craniofacial Abnormalities can leverage PubCompare.ai to identify the most effective protocols and products for their studies, enhancing reproducibility and accuracy.

Most cited protocols related to «Craniofacial Abnormalities»

1
Craniofacial Microsomia Longitudinal Study

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Publication 2018
AN 12 Cerebral Palsy Child Childbirth Craniofacial Abnormalities Diagnosis Ethics Committees, Research Face Gestational Age Hispanic or Latino Infant Injuries Kidney Legal Guardians Malignant Neoplasms Nager syndrome Nervous System Disorder Operative Surgical Procedures Parent Phenotype Pregnancy Premature Birth Speech Syndrome Townes Syndrome Wounds and Injuries
2
Comprehensive Genetic Disorder Screening
We collected 2,603 samples in 13 genetic-disorder categories: neurodevelopmental disorders, blindness, deafness, immunodeficiency, movement disorders, muscle disorders, renal disorders, craniofacial anomalies, disorders of sexual developmental, mitochondrial oxidative phosphorylation disorders, and metabolic disorders (Figure 1a). The germ line of 73 patients with microsatellite stable colorectal cancers was also analyzed. Finally, 119 patients with complex phenotypes were included (Supplementary Table S1 online). The exome sequencing data for all samples were previously analyzed for (potential) pathogenic small variants (mutations) that were found within a corresponding panel of disease genes as previously described.13 (link) In addition, the majority of the neurodevelopmental disorders samples had previously screened negative for CNVs, based mostly on Affymetrix 250k microarray data using an average resolution of 100 kb for deletions and 150 kb for duplications. CNV analysis was performed for all exome samples. First, it was performed for CNVs overlapping genes associated with the genetic-disorder category. Second, exome-wide analysis with a resolution of 200 kb was performed anonymously for all patients.
Pfundt R., del Rosario M., Vissers L.E., Kwint M.P., Janssen I.M., de Leeuw N., Yntema H.G., Nelen M.R., Lugtenberg D., Kamsteeg E.J., Wieskamp N., Stegmann A.P., Stevens S.J., Rodenburg R.J., Simons A., Mensenkamp A.R., Rinne T., Gilissen C., Scheffer H., Veltman JA Prof D.r, & Hehir-Kwa J.Y. (2016). Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Genetics in Medicine, 19(6), 667-675.
Publication 2016
Blindness Colorectal Carcinoma Craniofacial Abnormalities Disorders of Sex Development Exome Gene Deletion Genes, Overlapping Germ Line Hereditary Diseases Immunologic Deficiency Syndromes Kidney Diseases Metabolic Diseases Microarray Analysis Mitochondria Movement Disorders Mutation Myopathy Neurodevelopmental Disorders Oxidative Phosphorylation pathogenesis Patients Phenotype Short Tandem Repeat
3
Panoramic Radiography of Impacted Third Molars
A retrospective study was made of 705 patients (335 males and 370 females) with at least 1 impacted third molar detected on panoramic radiography at the Department of Oral and Maxillofacial Radiology from February to August 2014. The study plan was approved by the administration of the Faculty of Dentistry. Exclusion criteria were records of patients aged <19 years with any pathological dentoalveolar condition, any craniofacial anomaly or syndrome such as Down syndrome, cleidocranial dysostosis or the presence of incomplete records or poor-quality orthopantomograms, incomplete root formation of third molars or absence of adjacent second molars, a history of any dental extraction or orthodontic treatment. When reviewing panoramic radiographs, clinical records of patients were also examined, and related symptoms including pain, pericoronitis, lymphadenopathy (LAP) and trismus were noted for every patient. All impacted third molar teeth on panoramic radiographs were reviewed by a single examiner (S.Y.) using a Cliniview 10.0.2 (Instrumentarium, Tuusula, Finland) X-ray viewer to determine the levels of eruption and angulations. In order to minimize the risk of false assessments caused by fatigue, no more than 50 radiographs were evaluated at a time. The depth of impacted lower third molars in relation to the occlusal plane was recorded according to the classification of Pell and Gregory (fig. 1). The angulation of an impacted third molar was documented based on Winter's classification with reference to the angle formed between the intersected longitudinal axes of the second and third molars (fig. 2). The distance from the ramus to the distal surface of the second molar (retromolar space) was also measured (fig. 3).
Distributions of obtained values were compared using a Pearson χ2 test, using the Statistical Package for the Social Sciences 22 software. Distribution of retromolar space was tested for normality using Kolmogorov-Smirnov and Shapiro-Wilk tests. When the retromolar space was not found to be normally distributed (p < 0.05), the Mann-Whitney U test was used to compare 2-group variables. The Kruskal-Wallis test and pairwise comparisons were used to compare 3-group variables. One hundred panoramic radiographs were re-evaluated after an interval of 1 week to measure intraexaminer error. The Cohen kappa coefficient was found to be 91%.
Yilmaz S., Adisen M.Z., Misirlioglu M, & Yorubulut S. (2015). Assessment of Third Molar Impaction Pattern and Associated Clinical Symptoms in a Central Anatolian Turkish Population. Medical Principles and Practice, 25(2), 169-175.
Publication 2015
Cleidocranial Dysplasia Craniofacial Abnormalities Down Syndrome Epistropheus Faculty Fatigue Females Health Risk Assessment Lymphadenopathy Males Molar Occlusal Plane Pain Panoramic Radiography Pathologic Processes Patients Pericoronitis Radiography Syndrome Third Molars Tooth Eruption Tooth Extraction Tooth Root Trismus X-Rays, Diagnostic
4
Genome-Wide Association Study of Orofacial Clefts
Two consortia contributed to this study. The first, from the GENEVA consortium, used a family-based design and included 461 case-parent trios with cleft lip (CL), 1,143 case-parent trios with cleft lip and palate (CLP), and 451 case-parent trios with CP, respectively, from populations in Europe (Denmark and Norway), the United States, and Asia (Singapore, Taiwan, Philippines, Korea, and China). The specifics of this study have been described previously (Beaty et al., 2010 (link); Leslie, Carlson, et al., 2016 (link); Leslie, Liu, et al., 2016 (link)). Briefly, samples were genotyped for 589,945 SNPs on the Illumina Human610-Quadv.1_B BeadChip, genetic data were phased using SHAPEIT, and imputation was performed with IMPUTE2 software to the 1000 Genomes Phase 1 release (June 2011) reference panel. Genotype probabilities were converted to most-likely genotype calls with the GTOOL software (http://www.well.ox.ac.uk/~cfreeman/software/gwas/gtool.html).
The second consortium included samples from the Pittsburgh Orofacial Cleft (POFC) study, comprising 179 cases and 271 case-parent trios with CL, 644 cases and 1,048 trios with CLP, 78 cases and 165 trios with CP, and 1,700 unaffected controls with no history of craniofacial anomalies. Participants were recruited from 13 countries in North America (United States), Central or South America (Guatemala, Argentina, Colombia, Puerto Rico), Asia (China, Philippines), Europe (Denmark, Turkey, Spain), and Africa (Ethiopia, Nigeria). Additional details on recruitment, genotyping, and quality controls were previously described (Leslie, Carlson, et al., 2016 (link); Leslie, Liu, et al., 2016 (link)). Briefly, these samples were genotyped for 539,473 SNPs on the Illumina HumanCore+Exome array. Data were phased with SHAPEIT2 and imputed using IMPUTE2 to the 1000 Genomes Phase 3 release (September 2014) reference panel. The most-likely genotypes (i.e. genotypes with the highest probability [Q]) were selected for statistical analysis only if the genotype with the highest probability was greater than 0.9.
A total of 412 individuals were in both the GENEVA OFC and POFC studies, so we excluded these participants from the GENEVA study for this analysis. Informed consent was obtained for all participants and all sites had both local IRB approval and approval at the University of Pittsburgh, the University of Iowa, or Johns Hopkins University. Individual level genotype and phenotype data for the GENEVA and POFC studies are available from dbGaP: phs000774.v1.p1 and phs000094.v1.p1.
Carlson J.C., Anand D., Butali A., Buxo C.J., Christensen K., Deleyiannis F., Hecht J.T., Moreno L.M., Orioli I.M., Padilla C., Shaffer J.R., Vieira A.R., Wehby G.L., Weinberg S.M., Murray J.C., Beaty T.H., Saadi I., Lachke S.A., Marazita M.L., Feingold E, & Leslie E.J. (2019). A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals. Genetic epidemiology, 43(6), 704-716.
Publication 2019
Cleft Palate Cleft Palate, Isolated CP 165 Craniofacial Abnormalities Exome Genome Genome-Wide Association Study Genotype Lips, Cleft Parent Phenotype Population Group Single Nucleotide Polymorphism TRIO protein, human
5
Oral Health Examination in PHIV Youth
We conducted a cross-sectional study within the Adolescent Master Protocol (AMP) of the Pediatric HIV/AIDS Cohort Study (PHACS). AMP is a prospective cohort study designed to determine the impact of HIV infection and antiretroviral therapy (ART) on PHIV youth. AMP includes a comparison group of perinatally HIV-exposed but uninfected (PHEU) youth. AMP eligibility criteria included perinatal HIV infection or exposure and age 7 to < 16 years at enrollment. [12 (link), 13 (link)] Regularly scheduled visits included audio-computer assisted structured interviews (ACASI), physical examination, and chart reviews for medication, diagnoses, CD4 counts and viral load (VL). [12 (link), 13 (link)] Participants enrolled in AMP from March 2007 through October 2009 at 15 US clinical research sites. For this Oral Health protocol, sites were required to have either an affiliated dental school or dentist. Participants were enrolled from September 2012 through January 2014. Exclusion criteria included anesthesia being required to complete a dental examination, craniofacial anomalies that prevented completion of a comprehensive oral examination and a history of head or neck radiation. All eligible subjects from participating sites were asked to enroll.
Institutional Review Boards (IRB) at clinical sites and the Harvard T.H. Chan School of Public Health approved the study. Parents/legal guardians provided written informed consent for their child’s participation. Youth consented/assented per local IRB guidelines.
Moscicki A.B., Yao T.J., Ryder M.I., Russell J.S., Dominy S.S., Patel K., McKenna M., Van Dyke R.B., Seage GR I.I.I, & Hazra R. (2016). The Burden of Oral Disease among Perinatally HIV-Infected and HIV-Exposed Uninfected Youth. PLoS ONE, 11(6), e0156459.
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Publication 2016
Acquired Immunodeficiency Syndrome Adolescent CD4+ Cell Counts Child Craniofacial Abnormalities Dental Anesthesia Dental Health Services Dentist Diagnosis Eligibility Determination Ethics Committees, Research Head HIV Infections Legal Guardians Medication Review Neck Oral Examination Parent Physical Examination Radiotherapy Therapeutics Youth

Most recents protocols related to «Craniofacial Abnormalities»

1
Pediatric Pneumonia Exclusion Criteria
Patients were excluded from the study if: (a) aged below 3 months or above 24 months; (b) duration of symptoms was 14 days and more; (c) wheezing illness documented; (d) confirmed to have comorbidities related to cardiac diseases, central nervous system diseases, birth defects affecting upper and lower respiratory tract systems such as cleft lip and craniofacial abnormalities, gastroesophageal reflux, or aspiration pneumonitis; (e) premature infants (gestational age <37 completed weeks); and (f) the pneumonia was not confirmed radiologically.
Iliya J., Shatima D.R., Tagbo B.N., Ayede A.I., Fagbohun A.O., Rasaq A., Nalban S., Elon I.W., Mohammed-Nafiu R., Ahmed P., Oyewole O.B., Bakare A.A., Yusuf B.O., Akinrinoye O.O., Ogala W.N, & Falade A.G. (2023). Pneumonia hospitalizations and mortality in children 3 – 24-month-old in Nigeria from 2013 to 2020: Impact of pneumococcal conjugate vaccine ten valent (PHiD-CV-10). Human Vaccines & Immunotherapeutics, 19(1), 2162289.
Publication 2023
Aspiration Pneumonia Central Nervous System Diseases congenital defects Craniofacial Abnormalities Gastroesophageal Reflux Disease Gestational Age Heart Diseases Lips, Cleft Patients Pneumonia Preterm Infant Respiratory System
2
Incidental Pathological Findings in Orthodontic Radiographs
A retrospective cross-sectional study was conducted using radiographs from 1 January 2015 to 31 December 2019. The study setting was the postgraduate clinic of the Department of Orthodontics at a university dental hospital. Utilizing all pretreatment panoramic radiographs as the sampling frame, systematic sampling was used to select a minimum of 100 radiographs. All panoramic radiographs were taken following a standard protocol with Orthophos XG3D/Ceph (Sirona Dental Systems, Germany) at an adjusted voltage of 60–90 Kv, and 3–16 mA, and an exposure time of 9.4–14.1 s. The Sirona protocol was adjusted to the patient’s age, size, and weight.
Sample size was calculated using a prevalence of 8.7% in incidental pathological findings in the orthodontic pre-treatment panoramic radiographs reported by Bondemark et al. [13 (link)]. A 95% confidence level and a precision of 5% in the prevalence estimate using the following Dobson’s formula [16 (link)] to give a minimum sample size of: n=Z2×p(1−p)d2
where p is the prevalence of incidental pathological findings (8.7%);
d is the precision of the estimate of prevalence of incidental findings (0.05);
Z is the standard normal deviate at a given confidence level (1.96 at 95% confidence level).
Thus, using these input parameters, the minimum sample size was calculated to be

n = 100
The inclusion criteria were patient clinical records with no previous history of orthodontic treatment. The age group included adults and children and panoramic radiographs of good quality were used. Patients with previous history of orthodontic treatment and craniofacial anomalies were excluded from the study. Ethical approval was obtained from the Human Research Ethics Committee (M210625) to conduct the study.
Hlongwa P., Moshaoa M.A., Musemwa C, & Khammissa R.A. (2023). Incidental Pathologic Findings from Orthodontic Pretreatment Panoramic Radiographs. International Journal of Environmental Research and Public Health, 20(4), 3479.
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Publication 2023
Adult Age Groups Child Craniofacial Abnormalities Dental Health Services Ethics Committees, Research Homo sapiens Panoramic Radiography Patients Reading Frames X-Rays, Diagnostic
3
Sibling Study of Chronic Adenoid Hypertrophy
We retrospectively analyzed a group of 1247 preschool children (3–7 year of age) who visited a medical outpatient ear, nose, and throat (ENT) clinic with symptoms suggestive of chronic AH between 2016 and 2021. We searched the medical history of all preschool children admitted to the ENT outpatient clinic. Then, 82 pairs of siblings were selected. We included in the study each pair of children if they were examined in the ENT outpatient clinic at around the same age, where the permissible age difference should not exceed 12 months. We then called their caretakers to confirm if the siblings had the same parents. Exclusion criteria from the study were: children brought up in a common household who have the same last name but different parents, craniofacial anomalies, such as cleft lip/cleft palate; genetic diseases (Down Syndrome); septal nasal deviation; nasal polyp or inferior turbinate hypertrophy; active upper respiratory infection within 2 weeks of enrolling in the study; or previously performed adenoidectomy. In the end, 49 pairs of siblings qualified for participation in the study.
The initial assessment of each patient after study enrollment included a parental questionnaire concerning recurrent upper respiratory infections, defined as a frequent runny nose, pharyngitis, or a cough [14 (link)]. We also analyzed the symptoms of rhinitis—at least two nasal symptoms: rhinorrhea, blockage, sneezing, or itching and snoring—defined as persistent, occasional, or non-existent [15 (link)]. All children performed an ENT physical examination, flexible fiberoptic rhinoscopy, and tympanometry.
Additionally, we analyzed whether residing in the city or rural regions affects the adenoid size. We divided the children into two groups: those living in the city (population: 170,000–340,000 citizens), and those living in the countryside.
Seasons may influence adenoid mucus coverage and tympanometry type [3 (link)]. To avoid any seasonal influence on the obtained results and compare better the sibling population from this study, we divided the year into two main seasons, winter and summer, and we considered the cut-off temperature to be 10 °C and also analyzed seasons of performed examination.
Zwierz A., Domagalski K., Masna K, & Burduk P. (2023). Siblings’ Risk of Adenoid Hypertrophy: A Cohort Study in Children. International Journal of Environmental Research and Public Health, 20(4), 2910.
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Publication 2023
Adenoidectomy Adenoids Child Child, Preschool Cleft Palate Cough Craniofacial Abnormalities Down Syndrome Hereditary Diseases Households Hypertrophy Lips, Cleft Mucus Nasal Polyps Nose Outpatients Palate Parent Patients Pharyngitis Pharynx Physical Examination Rhinitis Rhinorrhea Turbinates Tympanometry Upper Respiratory Infections
4
CBCT Analysis of Condylar Resorption
This study was based on pre- and postsurgical (two years) CBCT-scans from a study sample diagnosed with maxillary and/or mandibular growth disturbances, who underwent a combined bilateral sagittal split osteotomy (BSSO) and Le Fort I procedure at the Department of Oral and Maxillofacial Surgery, University Hospital of Southern Denmark, Esbjerg, Denmark. The study sample was selected, such that half of the subjects were diagnosed with postoperative condylar resorption and the other half without.
Inclusion criteria: age range of 18–65 years; diagnosis indicating a combined BSSO and Le Fort I osteotomy; availability of patients’ pre- and postoperative (two years) CBCT scans. Exclusion criteria: previous history of oral and maxillofacial surgery, presence of craniofacial anomaly syndrome, rheumatoid arthritis, or previous trauma.
Holte M.B., Sæderup H, & Pinholt E.M. (2023). A Semi-Automatic Approach for Holistic 3D Assessment of Temporomandibular Joint Changes. Journal of Personalized Medicine, 13(2), 343.
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Publication 2023
Condyle Craniofacial Abnormalities Diagnosis Mandible Maxilla Osteotomy Osteotomy, Le Fort Patients Radionuclide Imaging Rheumatoid Arthritis Syndrome Wounds and Injuries
5
Orthodontic Needs in Asthmatic Children
The present study was approved by the Bioethics Committee of the University of Salamanca (USAL 142/20). We report the data according to STROBE guidelines. The study was performed according to the 1964 Declaration of Helsinki and its later amendments [13 (link)].
The present study identified a sample of 140 consecutive children through the dental screening program at the dental clinic of the University of Salamanca between January 2020 and November 2022. The program consisted of an oral evaluation to determine whether orthodontic treatment was necessary. We informed the participants about the procedure and the confidentiality of the information obtained. We excluded patients who declined to participate. We obtained written informed consent from all subjects. A single examiner performed the oral examinations, determined the presence of malocclusions, assessed the severity of the malocclusions, and provided the patients with the oral quality of life questionnaire. Prof. Dr. Adrián Curto was the examiner, and he is a practitioner with a clinical focus on orthodontics and pediatric dentistry.
The inclusion criteria were as follows: patients aged between 11 and 14 years and diagnosed with asthmatic pathology according to the criteria established by the Spanish Society of Pediatrics (GEMA guide) [2 ,14 (link)]. To be included in the study, patients had to have been diagnosed with asthma at least one year before the study began. The exclusion categories were previous orthodontic treatment, caries or untreated periodontal pathology, craniofacial anomalies such as cleft lip or palate, symptoms or diagnosis of temporomandibular joint pathology, and cognitive disorders. We performed a detailed history to confirm that the participants met the inclusion and exclusion criteria.
Curto A., Mihit F., Curto D, & Albaladejo A. (2023). Assessment of Orthodontic Treatment Need and Oral Health-Related Quality of Life in Asthmatic Children Aged 11 to 14 Years Old: A Cross-Sectional Study. Children, 10(2), 176.
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Publication 2023
Asthma Child Cognition Disorders Craniofacial Abnormalities Dental Caries Diagnosis Hispanic or Latino Lips, Cleft Malocclusion Oral Examination Palate Patients Periodontium Temporomandibular Joint

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More about "Craniofacial Abnormalities"

Craniofacial abnormalities, also known as facial deformities or craniofacial disorders, encompass a diverse range of congenital conditions affecting the head, face, and skull.
These complex malformations can involve the bones, soft tissues, or both, leading to a wide spectrum of functional and aesthetic impairments.
Individuals with craniofacial abnormalities may experience difficulties with breathing, swallowing, vision, hearing, and facial appearance.
Common examples include cleft lip/palate, craniosynostosis (premature fusion of skull bones), and hemifacial microsomia (underdevelopment of one side of the face).
Early and accurate diagnosis, along with a multidisciplinary approach to management, is crucial for optimizing outcomes and improving the quality of life for affected individuals.
Researchers investigating craniofacial abnormalities can leverage advanced technologies like Amira 5.3.3 for 3D visualization, Somatom Definition for high-resolution imaging, and the MirVana miRNA Isolation Kit for genetic analysis.
The HiSeq machine, a powerful next-generation sequencing platform, and Digital SLR cameras can be employed to capture detailed data and images.
The NanoDrop ND-2000 spectrophotometer and the Agilent 2100 Bioanalyzer provide valuable tools for quantifying and analyzing biomolecules, while the KAPA HyperPlus Kit enables efficient library preparation for sequencing.
In addition, the In-Ovation system offers a comprehensive solution for the management and treatment of craniofacial conditions.
By utilizing these cutting-edge technologies and tools, researchers can enhance the reproducibility and accuracy of their studies, leading to better understanding and improved patient outcomes.
PubCompare.ai, the leading AI-driven platform, can assist researchers in identifying the most effective protocols and products for their craniofacial abnormalities studies, further optimizing their research processes and advancing the field.