DiGeorge Research Articles

Commentary on "Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis".

Commentary on "Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis".

Maximal Mouth Opening in Infants: A Single-Group Prospective Cohort Study

BackgroundDetection of mandibular range of motion variations in infants may allow for early diagnosis of pathologic conditions to the temporomandibular joint. PurposeThe purpose of this study was to determine the normal ranges for maximal mouth opening (MMO) in healthy infants under 12 months of age. Study design, setting, sampleA single-group prospective cohort study of consecutive patients below 12 months of age was conducted in an outpatient setting at the Florida Craniofacial Institute in Tampa, Florida. Patients were excluded if they had trismus, presented with signs of obstructive sleep apnea, suffered a facial fracture, or were diagnosed with a craniofacial syndrome. Predictor/exposure/independent variableAge (in months) at the time of presentation, measured as a continuous variable. Main outcome variable(s)The main outcome variable was MMO. This was measured by placing a thumb and forefinger in the infant’s mouth and apply slight pressure to encourage maximal mouth opening. In older infants with erupted central incisors, MMO was measured from the gingival margins. CovariatesThe covariates were sex, race, and gestational age. AnalysesFindings were presented as means with 95% confidence intervals. A multivariate linear regression analysis was conducted to evaluate changes in MMO with increasing age. ResultsThe sample was composed of 151 infants with a mean age of 5.2 months (95% CI 4.8 to 5.6), and 33% were female. The mean MMO was 32.1 mm (95% CI 31.5 to 32.7). Results of the linear regression analysis showed MMO to significantly increase with increasing age, increasing at a mean rate of approximately 1 mm per month (coefficient 1.06, 95% CI 0.88 to 1.23, p<0.001). In neonates <1 month of age, the mean MMO was 22.0 mm (95% CI 20.4-23.6), compared to a mean of 36.7 mm (95% CI 34.8-38.6) in infants 11 months of age. Conclusions and RelevanceThe results of this study provide normative data of the association of age with MMO, which may be of value in assessing for infants with jaw mobility disorders.

Risk Factors for Hardware Removal Following Bimaxillary Surgery: A National Database Analysis.

Orthognathic surgery typically relies on the rigid fixation of fracture fragments using metal hardware. Though hardware is usually intended to be implanted permanently, the removal of hardware (ROH) is sometimes indicated for a variety of reasons. The authors sought to identify risk factors for ROH following orthognathic surgery. The authors conducted a retrospective analysis of the Merative MarketScan Research Databases, 2007-2021 using Current Procedural Terminology (CPT) and International Classification of Disease (ICD-9 and ICD-10) codes to identify patients who underwent an index Le Fort 1 osteotomy and bilateral sagittal split osteotomy operation on the same day. Statistical analysis involved χ2, Shapiro-Wilk, Wilcoxon-Mann-Whitney, Poisson regression, and multivariable logistic regression tests. 4698 patients met the inclusion criteria. The mean age at surgery was 25 years, and 57% were female. ROH occurred in 5.9% of patients. The mean time to hardware removal was 190.5±172.4 days. In a multivariate logistic regression, increased odds of ROH were associated with older patient age [OR: 1.02 (1.01-1.03), P=0.046], sleep apnea [OR: 1.62 (1.13-2.32), P=0.018], and craniofacial syndrome and/or cleft diagnoses [OR: 1.88 (1.14-2.55), P<0.001]. In the same model, postoperative oral antibiotic prophylaxis was not associated with ROH (P=0.494). The incidence of all-cause complications [IRR: 1.03 (1.01-1.05), P<0.001] rose over the study period, while the incidence of ROH did not change significantly (P=0.281). Patients at elevated risk should be counseled on the increased possibility of a second operation for ROH before having orthognathic surgery to ensure expectations and health care utilization decisions align with the evidence.

Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.

Patients with partial DiGeorge syndrome (pDGS) can present with immune dysregulation, the most common being autoimmune cytopenia (AIC). There is a lack of consensus on the approach to type, combination, and timing of therapies for AIC in pDGS. Recognition of immune dysregulation early in pDGS clinical course may help individualize treatment and prevent adverse outcomes from chronic immune dysregulation. Objectives of this study were to characterize the natural history, immune phenotype, and biomarkers in pDGS with AIC. Data on clinical presentation, disease severity, immunological phenotype, treatment selection, and response for patients with pDGS with AIC were collected via retrospective chart review. Flow cytometric analysis was done to assess T and B cell subsets, including biomarkers of immune dysregulation. Twenty-nine patients with the diagnosis of pDGS and AIC were identified from 5 international institutions. Nineteen (62%) patients developed Evan's syndrome (ES) during their clinical course and twenty (69%) had antibody deficiency syndrome. These patients demonstrated expansion in T follicular helper cells, CD19hiCD21lo B cells, and double negative cells and reduction in CD4 naïve T cells and regulatory T cells. First-line treatment for 17/29 (59%) included corticosteroids and/or high-dose immunoglobulin replacement therapy. Other overlapping therapies included eltrombopag, rituximab, and T cell immunomodulators. AIC in pDGS is often refractory to conventional AIC treatment paradigms. Biomarkers may have utility for correlation with disease state and potentially even response to therapy. Immunomodulating therapies could be initiated early based on early immune phenotyping and biomarkers before the disease develops or significantly worsens.

Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry.

3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric disorders. However, the full spectrum of behavioral phenotypes associated with 3q29del is still evolving. Individuals with 3q29del (n = 96, 60.42% male) or their guardian completed the Achenbach Child or Adult Behavior Checklist (CBCL/ABCL) via the online 3q29 registry (3q29deletion.org). Typically developing controls (n = 57, 49.12% male) were ascertained as a comparison group. We analyzed mean performance on the CBCL/ABCL for individuals with 3q29del and controls across composite, DSM-keyed, and developmental scales; and the relationship between CBCL/ABCL performance and clinical and developmental phenotypes for individuals with 3q29del. Individuals with 3q29del showed significantly elevated behavioral and developmental impairment relative to controls across CBCL/ABCL domains. A substantial proportion of study participants with 3q29del scored in the Borderline or Clinical range for composite and DSM-keyed scales, indicating significant behavioral problems that may require clinical evaluation. We found that the preschool CBCL DSM-keyed autism spectrum problems scale is a potential screening tool for autism spectrum disorder (ASD) for individuals with 3q29del; CBCL/ABCL DSM-keyed scales were not accurate screeners for anxiety disorders or attention-deficit/hyperactivity disorder (ADHD) in our study sample. We identified a high degree of psychiatric comorbidity in individuals with 3q29del, with 60.42% (n = 58) of individuals with 3q29del scoring in the Borderline or Clinical range on two or more DSM-keyed CBCL/ABCL scales. Finally, we found that the degree of developmental delay in participants with 3q29del does not explain the increased behavioral problems observed on the CBCL/ABCL. The CBCL/ABCL can be used as screening tools in populations such as 3q29del, even in the presence of substantial psychiatric comorbidity. These results expand our understanding of the phenotypic spectrum of 3q29del and demonstrate an effective method for recruiting and phenotyping a large sample of individuals with a rare genetic disorder.

The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos

The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos

N6-methyladenosine-induced miR-182-5p promotes multiple myeloma tumorigenesis by regulating CAMK2N1.

Methyltransferase like 3 (METTL3) has been reported to promote tumorigenesis of multiple myeloma (MM), however, the molecular mechanism still needs further research. The N6-methyladenosine (m6A) level in tissues or cells was measured by m6A kit and dot blot assay. The mRNA and protein expression were detected by quantitative real-time PCR (RT-qPCR) and Western blot, respectively. The cell counting kit-8 and colony formation assay were used to detect the cell proliferation. Coimmunoprecipitation (Co-IP) experiment verified the binding of two proteins. The luciferase reporter experiment demonstrated the targeted binding of miR-182-5p and CaMKII inhibitor 1 (CAMK2N1). More importantly, tumor growth was measured in xenograft mice. Our data showed that the expression of METTL3 was significantly increased in MM patients' samples and MM cells. METTL3 overexpression promoted MM cells proliferation, and METTL3 knockdown inhibited MM cells proliferation. Mechanically, METTL3-dependent m6A participated in DiGeorge syndrome critical region 8 (DGCR8)-mediated maturation of pri-miR-182. Upregulation of miR-182-5p further enhanced the promoting proliferation effect of METTL3 overexpression on MM cells. Moreover, the luciferase reporter gene experiment proved that miR-182-5p targetedly regulated CAMK2N1 expression. Xenograft tumor in nude mice further verified that METTL3 promoted MM tumor growth through miR-182/CAMK2N1 signal axis. In summary, the METTL3/miR-182-5p/CAMK2N1 axis plays an important role in MM tumorigenesis, which may provide a new target for MM therapy.

Thrombospondin-1 is an endogenous substrate of cereblon responsible for immunomodulatory drug–induced thromboembolism

AbstractImmunomodulatory drugs (IMiDs) are key drugs for treating multiple myeloma and myelodysplastic syndrome with chromosome 5q deletion. IMiDs exert their pleiotropic effects through the interaction between cell-specific substrates and cereblon, a substrate receptor of the E3 ubiquitin ligase complex. Thus, identification of cell-specific substrates is important for understanding the effects of IMiDs. IMiDs increase the risk of thromboembolism, which sometimes results in fatal clinical outcomes. In this study, we sought to clarify the molecular mechanisms underlying IMiDs-induced thrombosis. We investigated cereblon substrates in human megakaryocytes using liquid chromatography–mass spectrometry and found that thrombospondin-1 (THBS-1), which is an inhibitor of a disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13, functions as an endogenous substrate in human megakaryocytes. IMiDs inhibited the proteasomal degradation of THBS-1 by impairing the recruitment of cereblon to THBS-1, leading to aberrant accumulation of THBS-1. We observed a significant increase in THBS-1 in peripheral blood mononuclear cells as well as larger von Willebrand factor multimers in the plasma of patients with myeloma, who were treated with IMiDs. These results collectively suggest that THBS-1 represents an endogenous substrate of cereblon. This pairing is disrupted by IMiDs, and the aberrant accumulation of THBS-1 plays an important role in the pathogenesis of IMiDs-induced thromboembolism.

Oral health knowledge, attitude and practice among parents of children with craniofacial syndromes.

Parents play an important role in caring for their children's oral health, especially for those with craniofacial deformities. In this study, we analyzed the oral health knowledge, attitude and practice (KAP) among parents of children of 1 to 16 years-of-age with craniofacial syndromes (CS) at Universiti Malaya Medical Center (UMMC), Malaysia. This was a case-controlled study conducted between March and December 2021 involving 30 parents of children with CS and 30 parents of normal children as controls. A modified validated KAP questionnaire was distributed to all parents. Statistical analysis was carried out using SPSS 26.0 and descriptive analysis was performed, with data expressed as mean, standard deviation, frequency and percentage (%). Most respondents from both groups were mothers (73.3%) between 31 to 40 years-of-age. Both groups of parents had similar levels of oral health knowledge; there was no significant difference between the two groups for 10 of the KAP questions (p > 0.05). However, there was a significant different between the two groups with regards to two 2 relating to the definition of plaque and its relationship to dental caries (p = 0.035 and p = 0.032, respectively). Some parents of CS children believed that primary teeth were not important (23.33%) and were not concerned if their children showed changes in tooth color (26.67%). Despite parental acknowledgement of ideal practice, both groups of children showed irregular dental attendance and reduced toothbrushing frequency. Parents of children with CS had a similar depth of oral health knowledge and a slightly reduced positive attitude when compared to parents in the control group. However, both groups of parents had poor knowledge relating to the transmission and causes of dental caries. Healthcare providers should increase their awareness strategies for parents to be more aware of the ways to improve their children's oral health.

Phelan-Mcdermid syndrome: Three Case Reports and a Literature Review

Phelan-McDermid syndrome (PMS) [OMIM: 606232], is a neurodevelopmental disorder commonly due to a deletion of chromosome 22q13.3. It is characterized by a neonatal hypotonia, absent to severely delayed speech, developmental delay, and minor dysmorphic facial features. The CGH array was performed in three patients referred to our genetics department for an autism spectrum disorder and a facial dysmorphia with a normal constitutional karyotype. The results showed a deletion of chromosome 22. The aim of the present case reports is to address these observations in the literature and to establish the genotype-phenotype correlation underlying this syndrome.

Neurological involvement in patients with primary immunodeficiency.

Primary immunodeficiency diseases (PID) are defined by recurrent infections, allergies, autoimmunity, and malignancies. Neurologic symptoms are one of the major components of some immunodeficiency syndromes, such as Ataxia-Telangiectasia (AT), Nijmegen breakage syndrome (NBS), and Purine Nucleoside Phosphorylase (PNP) deficiency, which are considered as the primary involvement. Various pathological mechanisms, DNA repair disorders, metabolic abnormalities, and autoimmune phenomena have also been linked with neurological conditions. We retrospectively assessed the neurological involvement in 108 patients out of 6000 with PID in this study. The female/male ratio of the cases was 49/59, and the median age was 13 years (min = 1; max = 60). Neurological problems were detected at a median age of 7 years (min = 0.5; max = 30). Di George Syndrome (DGS) and CVID (common variable immunodeficiency) were the most common diseases in our cohort (n = 31, 30% and n = 30, 27%, respectively). The most frequent outcomes were cognitive delay (n = 63, 58%), epilepsy (n = 25, 23%), and ataxia (n = 20, 18%). Central nervous system involvement was found in 99% of the patients (n = 107), and peripheral nervous system complication was found in only one patient with CVID and chronic inflammatory demyelinating polyneuropathy (CDIP). Cranial MRI was found to be abnormal in 74% (n = 80) of the patients. MRI findings included cerebellar atrophy (n = 33, 34%), white matter lesion (n = 27, 28.4%), cerebral atrophy (n = 21, 22.3%), gray matter lesion (n = 6, 6.3%), hydrocephalus (n = 5, 5,3%), and pituitary gland lesion (n = 3, 3.2%), intracranial hemorrhage (n = 3, 3%), intracranial vasculitis (n = 3, 2.7%), and arterio-venous malformation (n = 1, 0,9%). Primary involvement (a component of the disease) was 60% (n = 65), and secondary (infection or autoimmunity) and tertiary involvements (structural or incidental lesions) contributed 20% (n = 20) each in the patients. In this study, we describe the various neurologic findings of patients with PID. The neurologic presentation may represent the initial manifestation of certain types of PID. Early diagnosis and treatment are essential to prevent or reduce further neurologic damages.

Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.

Tetralogy of Fallot (TOF) and double-outlet right ventricle (DORV) are conotruncal defects resulting from disturbances of the second heart field and the neural crest, which can occur as isolated malformations or as part of multiorgan syndromes. Their etiology is multifactorial and characterized by overlapping genetic causes. In this chapter, we present the different genetic alterations underlying the two diseases, which range from chromosomal abnormalities like aneuploidies and structural mutations to rare singlenucleotide variations affecting distinct genes. For example, mutations in the cardiac transcription factors NKX2-5, GATA4, and HAND2 have been identified in isolated TOF cases, while mutations of TBX5 and 22q11 deletion, leading to haploinsufficiency of TBX1, cause Holt-Oram and DiGeorge syndrome, respectively. Moreover, genes involved in signaling pathways, laterality determination, and epigenetic mechanisms have also been found mutated in TOF and/or DORV patients. Finally, genome-wide association studies identified common singlenucleotide polymorphisms associated with the risk for TOF.

Human Genetics of Ventricular Septal Defect.

Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of all cardiac malformations, and occur as isolated CHDs as well as together with other cardiac and extracardiac congenital malformations in individual patients and families. The genetic etiology of VSD is complex and extraordinarily heterogeneous. Chromosomal abnormalities such as aneuploidy and structural variations as well as rare point mutations in various genes have been reported to be associated with this cardiac defect. This includes both well-defined syndromes with known genetic cause (e.g., DiGeorge syndrome and Holt-Oram syndrome) and so far undefined syndromic forms characterized by unspecific symptoms. Mutations in genes encoding cardiac transcription factors (e.g., NKX2-5 and GATA4) and signaling molecules (e.g., CFC1) have been most frequently found in VSD cases. Moreover, new high-resolution methods such as comparative genomic hybridization enabled the discovery of a high number of different copynumber variations, leading to gain or loss of chromosomal regions often containing multiple genes, in patients with VSD. In this chapter, we will describe the broad genetic heterogeneity observed in VSD patients considering recent advances in this field.

Endoscopic Microvascular Decompression.

Microvascular decompression is a widely accepted surgical treatment for compressive cranial nerve pathologies such as trigeminal neuralgia, hemifacial spasm, glossopharyngeal neuralgia, and other craniofacial pain syndromes. Endoscopy has risen as a safe and effective minimally invasive tool to optimize microvascular decompression. Endoscopy offers improved visualization, minimizes retraction, and allows for smaller surgical openings compared to traditional microscopic approaches. There are several reports of improved neuralgia outcomes and reduced post-operative complications after endoscopic microvascular decompression. In skilled surgical hands, endoscopy is an excellent option for microvascular decompression as stand-alone tool or adjunct to the microscope. An overview of the history, operative considerations, and techniques is provided in this chapter.

Congenital continuous retrograde basilar flow suggests type B interrupted aortic arch in a neonate: A case report

Reversed flow in the basilar artery can be acquired or congenital. Acquired reversed flow in the basilar artery can result from acute thrombosis of the basilar artery or retrograde vertebral artery flow. Congenital continuous retrograde basilar artery flow has not been described. We report a 2-day-old male presenting with hypocalcemic seizures which led us to obtain a Duplex echoencephalogram. An echocardiogram was subsequently ordered. In the coronal plane through the anterior fontanelle, retrograde flow was seen in the basilar artery and the right vertebral artery. In the axial plane through the temporal window, the flow was anteroposterior in both posterior communicating arteries. In the posterior cerebral arteries, the flow was retrograde in the P1 segment and anterograde in the P2 and P3 segments. An interrupted aortic arch was suspected. The echocardiogram showed a large perimembranous ventricular septal defect with bidirectional shunting, a hypoplastic and bicuspid aortic valve, an aortic arch interrupted between the left common carotid artery and the left subclavian artery (type B interrupted aortic arch), and a 5 mm patent ductus arteriosus with predominant right to left flow. Because of the patency of the large patent ductus arteriosus, our patient showed no sign of posterior circulation insufficiency. Prostaglandin E1 therapy was initiated immediately. Diagnosis of DiGeorge syndrome was proven. The infant underwent interrupted aortic arch repair and anterograde flow was established in the basilar artery. We conclude that congenital asymptomatic continuous retrograde flow in the basilar artery and left vertebral artery is a medical emergency as it implies the presence of type B interrupted aortic arch with large patent ductus arteriosus in a neonate.

A DiGeorge Syndrome Case Report&amp;#8212;Challenges of Diagnosis and Management

A DiGeorge Syndrome Case Report&amp;#8212;Challenges of Diagnosis and Management

Photoanthropometric craniofacial parameters in individuals with osteogenesis imperfecta.

This study aimed to evaluate facial photoanthropometric parameters in patients with OI. We selected 20 Brazilian patients diagnosed with OI treated at the Extension Service for Minors in Need of Specialized Treatment of the Dentistry Course at the Federal University of Ceará (Fortaleza, Brazil), of both sexes, without age restriction, and able to understand and sign the informed consent form (ICF). As a control group, 38 non-syndromic Brazilian individuals, categorized as ASA I, able to understand and sign the ICF, matched by sex, age, and Legan and Burstone facial profile were selected. The exclusion criteria were: previous orthodontic treatment, craniofacial trauma and/or surgery, and the presence of any other systemic diseases. Photoanthropometric analysis of the 18 facial parameters proposed by Stengel-Rutkowski et al. (1984), previously established in the literature for craniofacial syndromes, were conducted. A single examiner digitally performed all effective and angular measurements with the CorelDRAWX7® software. Horizontally shortened ears (p<0.001) but larger in height in relation to the face (p=0.012) were shown to be alterations belonging to individuals with OI. OI patients present distinct photoanthropometric parameters inherent in this condition.

Subglottic stenosis as an early presentation of DiGeorge Syndrome

&lt;b&gt;&lt;br&gt;Introduction:&lt;/b&gt; DiGeorge Syndrome, a microdeletion on chromosome 22q11.2, encompasses a myriad of congenital abnormalities. These often include cardiac malformations, velopharyngeal insufficiency, immune deficiency, parathyroid hypoplasia, and hypocalcemia. Although congenital defects of the larynx are quite well acknowledged in the literature, their presence and prevalence in this syndrome remain unknown.&lt;/br&gt; &lt;b&gt;&lt;br&gt;Aim:&lt;/b&gt; We present a case report describing an infant whose initial presentation and symptoms were not suggestive of DiGeorge Syndrome. We also discuss the prevalence of subglottic stenosis among young patients diagnosed with DiGeorge Syndrome.&lt;/br&gt; &lt;b&gt;&lt;br&gt;Case report:&lt;/b&gt; A two-month-old infant was admitted to the Pediatric Otolaryngology Department after difficulties with intubation and extubation during surgical repair of intestinal malrotation. Laryngoscopic examination revealed stage III subglottic stenosis. Laryngotracheoplasty with anterior costal cartilage graft was performed, followed by a series of balloon dilation procedures due to postoperative adhesions and recurrent subglottic stenosis. A comprehensive postsurgical evaluation of the patient confirmed the diagnosis of DiGeorge Syndrome.&lt;/br&gt; &lt;b&gt;&lt;br&gt;Conclusions:&lt;/b&gt; The presented case underscores the broad clinical presentation of DiGeorge Syndrome and emphasizes the importance of maintaining a high index of suspicion in patients demonstrating an unusual confluence of symptoms. Detailed investigation and early diagnosis can significantly contribute to appropriate management, thereby potentially improving outcomes in this patient population.&lt;/br&gt;

Frequency and Pattern of Anterior Crossbite With Primary and Mixed Dentition in School Children

OBJECTIVES To determine the frequency and pattern of anterior crossbite with primary and mixed dentition in School Children. METHODOLOGY A descriptive cross-sectional study was conducted at Sharif Medical and Dental College, Lahore. This study included 296 participants having either deciduous or mixed dentition, no history of orthodontic treatment, aged between 3-11 years, both genders and Pakistani nationals. Participants with a history of trauma, cleft lip/palate, or any craniofacial syndrome and systemic disease were excluded. Participant’s age, gender, skeletal class, and anterior crossbite (ACB) were recorded. The Chi-square/Fisher exact test was run to compare ACB and their pattern among gender, age group, and skeletal class. RESULTSThere is a relatively high rate of anterior crossbite in this population, which is about 10%. The females were 169(57.09%) and males were 127(42.91%). The mean age was 6.92 ± 1.68 years. Overall, the ACB was present in 31(10.47%). The most common pattern of ACB was single incisor involvement (n=11, 35.48%) followed by two incisors (n=9, 29.03%), and the least was four incisors (n=5, 16.13%). The difference for ACB was statistically significant among skeletal classes (p&lt;0.001). The frequency of ACB was higher in skeletal class 1 (n=17, 54.84%) and in skeletal class 3 (n=13, 41.94%) than in class 2 (n=1, 3.23%). CONCLUSION The frequency of anterior crossbite is about 10%, which is relatively higher than in other populations. Most anterior cross bites are dental due to one or two incisor involvement, which can be corrected easily at the mixed dentition stage.

Review of craniofacial pain syndromes involving the greater occipital nerve: relevant anatomy, clinical findings, and interventional management.

Craniofacial pain syndromes exhibit a high prevalence in the general population, with a subset of patients developing chronic pain that significantly impacts their quality of life and results in substantial disabilities. Anatomical and functional assessments of the greater occipital nerve (GON) have unveiled its implication in numerous craniofacial pain syndromes, notably through the trigeminal-cervical convergence complex. The pathophysiological involvement of the greater occipital nerve in craniofacial pain syndromes, coupled with its accessibility, designates it as the primary target for various interventional procedures in managing craniofacial pain syndromes. This educational review aims to describe multiple craniofacial pain syndromes, elucidate the role of GON in their pathophysiology, detail the relevant anatomy of the greater occipital nerve (including specific intervention sites), highlight the role of imaging in diagnosing craniofacial pain syndromes, and discuss various interventional procedures such as nerve infiltration, ablation, neuromodulation techniques, and surgeries. Imaging is essential in managing these patients, whether for diagnostic or therapeutic purposes. The utilization of image guidance has demonstrated an enhancement in reproducibility, as well as technical and clinical outcomes of interventional procedures. Studies have shown that interventional management of craniofacial pain is effective in treating occipital neuralgia, cervicogenic headaches, cluster headaches, trigeminal neuralgia, and chronic migraines, with a reported efficacy of 60-90% over a duration of 1-9months. Repeated infiltrations, neuromodulation, or ablation may prove effective in selected cases. Therefore, reassessment of treatment response and efficacy during follow-up is imperative to guide further management and explore alternative treatment options. Optimal utilization of imaging, interventional techniques, and a multidisciplinary team, including radiologists, will ensure maximum benefit for these patients.