Dental Management of CHARGE Syndrome Under General Anaesthesia: A Case Report

ABSTRACT

Background

CHARGE syndrome is a rare congenital genetic disorder caused by variants in CHD7 gene. The acronym “CHARGE” represents its primary features: coloboma of the iris or retina, heart defects, choanal atresia, retardation of growth and development, genital anomalies, and ear anomalies including hearing loss. Craniofacial and oral abnormalities are a significant component of its clinical spectrum and often complicate conventional dental care, necessitating reliance on pharmacological behavior management techniques.

Case report

We report the case of a 4‐year‐old boy with CHARGE syndrome who underwent full‐mouth dental rehabilitation under general anesthesia. Owing to extensive dental disease, anticipated airway difficulty, and multiple systemic comorbidities, comprehensive multidisciplinary planning and specialized anesthetic management were undertaken. Treatment was completed successfully, with improved oral function and quality of life at follow‐up.

Conclusion

This case underscores the importance of meticulous treatment planning, specialized airway management, and perioperative monitoring, as well as the value of an interdisciplinary team in ensuring safe and effective care. To our knowledge, this is one of the few reports detailing the dental and anaesthetic considerations and management strategies for a child with CHARGE syndrome.

1. Introduction

CHARGE syndrome (OMIM #214800) is a rare congenital genetic disorder characterized by multisystem involvement and significant challenges in both medical and dental management. It has an estimated prevalence of approximately 1 in 10,000–15,000 live births [1]. Initially described in 1981 as an association of congenital anomalies; it was later recognized as a distinct syndrome and previously referred to as ‘Hall–Hittner syndrome’ in honor of its early investigators. Subsequent molecular studies have identified pathogenic variants in the CHD7 gene (Chromodomain‐helicase‐DNA‐binding protein 7) on chromosome 8q12 in more than 75% of affected individuals, confirming its genetic basis [2]. The critical role of the CHD7 gene in the neural crest development explains the craniofacial, ocular, cardiovascular, and auditory anomalies commonly observed in this disorder [3].

The acronym “CHARGE” represents its primary features such as, coloboma of the iris or retina, heart defects, atresia of the choanae, retardation of growth and development, genital anomalies, and ear anomalies including deafness [4]. However, the diagnostic criteria extend beyond the acronym. Major features include ocular coloboma, choanal atresia, characteristic ear anomalies or deafness, and cranial nerve (CN) dysfunction, while minor features encompass congenital heart defects, growth deficiency, genital hypoplasia, cleft palate, tracheoesophageal fistula, and distinctive facial characteristics [5]. Cranial nerve defects including the olfactory bulbs agenesis (CN I) resulting in anosmia is highly characteristic and palsies of the facial (CN VII) and glossopharyngeal/vagus nerves (CN IX/X) often underlie the swallowing, hearing, and facial functional deficits [6].

Craniofacial and oral abnormalities constitute a significant component of the clinical spectrum of CHARGE syndrome. Affected individuals often present with midfacial hypoplasia, cleft palate, micrognathia. Dental anomalies may present as taurodontism, tooth agenesis (hypodontia) or supernumerary teeth, enamel hypoplasia, and delayed eruption [7]. Oro‐motor dysfunction with severe feeding and swallowing difficulties is frequently observed and attributed to CN (IX/X) palsies [6]. In addition, behavioral and sensory impairments are also seen in these individuals ranging from self‐injury, aggression to social withdrawal. A significant proportion also present with neurodevelopmental or psychiatric diagnosis such as autism spectrum disorder, obsessive–compulsive disorder, or attention‐deficit/hyperactivity disorder [8]. These combined challenges often complicate conventional dental care and necessitate reliance on pharmacological behavior management techniques. While the systemic and medical aspects of CHARGE syndrome have been extensively described in the literature, reports focusing on oral manifestations and their comprehensive management remain limited. Furthermore, there is a paucity of documentation on the anesthetic considerations and dental management of these patients under general anesthesia.

We report the case of a 4‐year‐old boy with CHARGE syndrome who underwent full‐mouth dental rehabilitation under general anesthesia. This case highlights the importance of meticulous treatment planning and specialized airway management strategies and the value of an interdisciplinary team approach in ensuring safe and effective delivery of care. Furthermore, it demonstrates how comprehensive dental intervention can substantially improve both oral health and quality of life in children with CHARGE syndrome. This case report has been prepared in accordance with the CARE (CAse REport) guidelines (Supplementary file 1).

2. Case Presentation

A 4‐year‐old boy with a confirmed diagnosis of CHARGE syndrome was referred to the Unit of Paediatric and Preventive Dentistry, Oral Health Sciences Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, with the chief complaint of multiple decayed teeth and difficulty in chewing for the past 1.5 years. He was the first child of a non‐consanguineous marriage and had a younger sibling with no medical concerns. The past medical history revealed previous aortoplasty and ligation of patent ductus arteriosus for coarctation of the aorta. Systemic findings revealed bilateral choanal atresia, right‐sided inferior iris coloboma eye, and complete bilateral hearing loss. Cognitive assessment documented an IQ score of 58, indicating mild intellectual disability.

Extraoral examination showed midfacial hypoplasia, anteverted nostrils, and bilateral lower motor neuron palsy, giving an expressionless facial appearance (Figure 1). The child was also a habitual mouth breather due to the bilateral choanal atresia. Intra‐oral examination revealed a full primary dentition with generalized gingivitis and extensive carious lesions affecting multiple teeth [Federation Dentaire Internationale (FDI) notation‐ 53, 74, 75, 84, 85] and root stumps in relation to 54, 64, 51, 52, 61, 62 (Figure 2). Considering the child's diagnosis of CHARGE syndrome, age, developmental status, history of airway compromise and extensive dental needs necessitated treatment under general anesthesia to ensure safety and comprehensive care in a single visit.

FIGURE 1.

Frontal and lateral facial photographs showing midface hypoplasia, anteverted nostrils, signs of mouth breathing, and presence of a hearing aid indicating hearing impairment.

FIGURE 2.

Preoperative intraoral photographs illustrating (A) Grossly decayed teeth with retained roots in 51 and 52 and ICDAS 4 in 53 and grossly decayed teeth in 54; (B) Grossly decayed teeth with retained roots in 61 and 62 and ICDAS 4 in 63 and grossly decayed teeth in 64; (C & D) ICDAS 6 in 74,75 and 84 and ICDAS 4 in 85.

The patient was classified as ASA III owing to multisystem comorbidities like cardiovascular disorder, hearing difficulty, iris coloboma, choanal atresia. A thorough preoperative evaluation was carried out by paediatricians, cardiologists, ophthalmologists & ENT specialists with comprehensive hematological tests, brain MRI, echocardiography, electrocardiogram, chest X‐ray, automated perimetry and non‐contrast CT of head, neck and PNS. A previous history of oversedation with bradycardia requiring resuscitation was also noted. Given the elevated anesthetic risk and anticipated airway challenges typically associated with CHARGE syndrome, a fiber‐optic intubation was planned. Induction was achieved with sevoflurane and i.v dexmedetomidine to ensure a controlled and safe anaesthetic course. Preoperative monitoring included a comprehensive cardiac evaluation with echocardiography and ECG, as well as airway imaging for structural abnormalities. Continuous monitoring of O2 saturation, capnography, heart rate, blood pressure, and temperature was initiated before induction. Difficult airway equipment (video laryngoscopes, fibre‐optic bronchoscopes, and supraglottic devices) was kept readily available for anticipated airway difficulty.

Dental management (Figure 3) included extractions of non‐restorable teeth (54, 64, 51, 52, 61, 62). Pulpectomies with placement of stainless‐steel crowns on teeth 74, 75, 84 due to extensive pulpal involvement and need to retain these teeth for function and arch integrity and composite restorations on teeth 53, 63, 85 to restore form and function where adequate tooth structure remained. The procedure lasted 90 min with minimal blood loss. Postoperatively, the child was monitored in the PICU for 24 h during which recovery was uneventful. At the one‐month follow‐up, the parents reported resolution of pain, improved mastication, better sleep, and overall improvement in behaviour. At six months follow‐up, further positive outcomes were observed including enhanced feeding patterns and reduced irritability (Figure 4). The timeline of clinical events in the management of the child with CHARGE syndrome is presented in Table 1.These findings highlight the substantial improvement in oral health–related quality of life achieved through comprehensive dental rehabilitation in this child with CHARGE syndrome.

FIGURE 3.

Postoperative intraoral photographs showing (A) Extraction of teeth with poor prognosis in 54,52,51,61,62,64; (B) Pulpectomy and stainless‐steel crown restorations in 84,74,75 and composite restoration in 85.

FIGURE 4.

Six‐month follow‐up photographs showing improved oral health and patient quality of life.

TABLE 1.

Timeline of clinical events in the management of child with CHARGE syndrome.

Time point	Clinical event
Birth	Diagnosed with CHARGE syndrome; congenital anomalies identified
Early childhood	Underwent aortoplasty and PDA ligation
1.5 years before presentation	Onset of dental complaints (decayed teeth, difficulty chewing)
Initial dental visit	Clinical examination revealed multiple carious teeth and root stumps
Preoperative phase	Multidisciplinary evaluation (pediatrics, cardiology, ENT, ophthalmology); imaging and investigations performed
Treatment phase	Full‐mouth dental management under general anesthesia (extractions, pulpectomy, SSCs, restorations)
Immediate postoperative period	Monitored in PICU for 24 h; uneventful recovery
1‐month follow‐up	Resolution of pain; improved mastication, sleep, and behavior
6‐month follow‐up	Improved feeding patterns, reduced irritability, better quality of life

Long‐term management of this patient requires regular follow‐up to monitor oral health, craniofacial growth, and eruption of permanent dentition. Early loss of multiple primary teeth may necessitate future space management to prevent malocclusion. Preventive strategies, including fluoride therapy and dietary counselling, remain essential to reduce caries recurrence. As the child grows, reassessment of behaviour, cooperation, and treatment needs will guide future interventions, including potential orthodontic or prosthetic rehabilitation. These considerations highlight the importance of a growth‐sensitive follow‐up approach in children with CHARGE syndrome.

3. Discussion

The urgent medical needs of patients with CHARGE syndrome often overshadow routine oral health concerns, resulting in neglected dental care [7]. However, given the significant craniofacial abnormalities and their profound impact on function and quality of life, incorporating dental management into the overall treatment plan is essential [9]. This case highlights how comprehensive dental care supported by meticulous perioperative planning can effectively address these neglected oral health needs and contribute to a meaningful improvement in quality of life in a child with CHARGE syndrome.

Craniofacial and oral anomalies characteristic of CHARGE syndrome predispose affected children to mouth breathing, feeding difficulties, compromised oral hygiene, and an increased risk of dental caries [4]. Previously reported findings vary considerably and include taurodontism, hypodontia, supernumerary teeth, enamel defects, and even fused teeth, although the rarity of the condition precludes definition of a consistent dental phenotype [7]. A summary of previously reported cases in literature emphasizing craniofacial and dental characteristics and management strategies is presented in Table 2. In the present case, these factors manifested as generalized gingivitis, multiple carious lesions, and compromised masticatory efficiency necessitating comprehensive dental intervention. Because conventional behavior management is often unsuccessful in this population, pharmacological behavior guidance becomes indispensable. This in turn, places anesthetic considerations at the forefront of treatment planning. Complex airway anatomy, cranial nerve IX/X dysfunction leading to aspiration risk, and congenital cardiac anomalies contributing to hemodynamic instability further complicate perioperative management [10]. Dysfunction of the glossopharyngeal (IX) and vagus (X) nerves impairs the coordination of the pharyngeal swallowing, reduces laryngeal closure, and diminishes the cough reflex, compromising airway protection. This predisposes patients to oropharyngeal aspiration, which may exacerbate in the postoperative period by residual anesthetic effects and depressed protective reflexes increasing susceptibility to aspiration pneumonia in this cohort. Airway complications have been reported in 35% of CHARGE patients following surgery, with a 4% incidence specifically following dental procedures [6, 11].

TABLE 2.

Summary of literature on CHARGE syndrome highlighting its clinical spectrum of craniofacial feature and dental manifestations and its management approaches.

Author / Year	Age/Gender	Gene/ Pathological Variant	Craniofacial Features	Dental Manifestations	Management Strategies
Salerno et al., 2021 [12]	8/F	CHD7 gene mutation	Orofacial cleft, cranial nerve dysfunction, tracheoesophageal fistula, semi‐circular canal hypoplasia, maxillary hypoplasia	Delayed eruption, lack of space in primary dentition, no caries, cleft lip & palate, class III malocclusion with anterior crossbite	Preventive care with semi‐annual 5% NaF varnish application and sealant application
M. Chetty et al., 2020 [7]	4/F	CHD7 gene mutation /pathogenic variants at 8q12	Micrognathia, square‐shaped face, mid‐facial hypoplasia, malar flatness, anteverted nostrils, incompetent lips, expressionless face due to cranial nerve dysfunction	Bruxism, wear facets, no caries, fusion of tooth 81 & 82, poor oral hygiene	Primarily preventive care, oral hygiene maintenance, Fluoride varnish (5% NaF), regular 6 monthly follow ups
Liebermann et al., 2017 [13]	18/M	CHD7 gene mutation	Midfacial hypoplasia; oro‐facial anomalies such as bruxism, oral breathing	Taurodontism, hypodontia, ectopic eruption, supernumerary teeth, periodontal diseases	Use of CAD‐CAM long‐term interim restorations for conservative, esthetic, and functional rehabilitation until growth completion
Hudson et al., 2016 [14]	2–32 (15 patients)	CHD7 gene mutation	Cranial nerve V and cranial nerves IX, X, and XI contributing to dysphagia, abnormal chewing, packing and adverse feeding behaviors	Sub‐mucosal cleft, high arched palate, pocketing of food, hyposensitive oral cavity to different food texture, ankyloglossia	Behavioral treatment, feeding therapy including a focus on tongue mobility, and nerve stimulation advised
Inchingolo et al., 2014 [9]	9–12/F (8 patients)	CHD7 gene mutation	Slight facial asymmetry, bruxism, facial nerve palsy, “ab‐in‐gestes pneumonia”	Poor oral hygiene, periodontal diseases, mouth breathing	Collaboration among dental surgeons, psychologists, and geneticists is essential for diagnostic and therapeutic approach, leading to a more predictable and favorable prognosis.
Harrison et al., 1997 [15]	8/F 9/M (2 patients)	Not reported	Naso‐maxillary hypoplasia, mandibular retrognathism, mild facial asymmetry	Solitary maxillary central incisor, delayed eruption of permanent dentition, premolariform deciduous canine, caries‐free	Comprehensive dental rehab under general anesthesia

In the present case, the child's ASA III status, previous history of oversedation, and anticipated difficult airway required thorough preoperative planning and multidisciplinary evaluation. Fiber‐optic intubation was selected due to anticipated airway challenges. Sevoflurane was chosen for inhalational induction because of its rapid onset and favorable hemodynamic profile, while dexmedetomidine was administered to provide sedation, analgesia, and airway stability [16]. This combination facilitated a safe and controlled induction. A comprehensive preoperative assessment involving the specialists such as pediatrics, cardiology, otolaryngology, anesthesiology and pediatric dentistry was pivotal in minimizing perioperative risk and ensuring treatment success.

Patients with CHARGE syndrome present with complex medical and behavioural challenges that necessitate individualized dental care. Behavioural limitations often require pharmacological behaviour management, including sedation or general anesthesia [7]. Airway anomalies such as choanal atresia and cranial nerve dysfunction increase anesthetic risk, making thorough preoperative assessment essential [11]. Treatment planning should emphasize durable, low‐maintenance restorations like preformed stainless‐steel crowns and early implementation of preventive strategies, including topical fluoride application, dietary counselling, and reinforcement of oral hygiene practices, along with regular follow‐up.

Management of CHARGE syndrome requires a multidisciplinary approach. Referral to otolaryngology is important for airway and feeding issues, while cardiology evaluation is essential prior to invasive procedures in patients with congenital heart defects. Ophthalmologic and audiological assessments aid in addressing visual and hearing impairments. In addition, involvement of speech therapists and behavioural specialists can support feeding, communication, and cooperation during dental treatment. Early interdisciplinary collaboration is critical for safe and effective dental management [17, 18].

Following dental rehabilitation, the child exhibited marked improvement in oral function, sleep quality, and behavior, as measured by the Early Childhood Oral Health Impact Scale (ECOHIS) [19]. This validated parent‐reported questionnaire comprises parameters assessing the impact of oral health on quality of life: difficulty eating meals, difficulty speaking clearly, trouble sleeping, appearance‐related concerns, avoidance of social play/interaction, and negative emotional states such as sadness, irritability, or withdrawal. The tool was selected in this case to capture the functional, psychological, and social consequences of oral disease and its management, which are relevant in children with complex medical conditions like CHARGE syndrome, where feeding difficulties, communication challenges, and behavioral disturbances are common. There were significant improvements noted at 6 month follow up visit. The change in ECOHIS score from baseline to 6 months was 11 points (18 to 7). Using a distribution‐based approach (0.5 SD of baseline scores), the estimated MCID was 8.19. The observed reduction exceeded this threshold, indicating a clinically meaningful improvement in oral health–related quality of life [20]. These outcomes are consistent with previous studies demonstrating that restoring oral health can positively impact overall well‐being and quality of life in children with special healthcare needs treated under general anesthesia [21, 22, 23].

This case underscores the importance of prioritizing oral health within the multidisciplinary management of CHARGE syndrome. Early involvement by the dental team can prevent complications, reduce the need for extensive rehabilitation and optimize overall patient outcomes. Preventive strategies such as periodic topical fluoride applications, dietary counselling to limit the cariogenic exposure and reinforcement to adequate oral hygiene practices should be initiated at the earliest to maintain optimal oral health. Parental counselling plays a pivotal role in long‐term success by emphasizing the importance of home oral care and adherence to recall visits. Follow up every 6 to 12 months should be encouraged to monitor oral health, craniofacial growth, and systemic status, thereby ensuring early intervention and sustained oral function over time. Ultimately, interdisciplinary collaboration is indispensable to ensure that dental care is delivered safely and contributes meaningfully to the holistic management of these medically complex children.

4. Limitations

Radiographic assessment could not be performed, as the procedure was carried out in a major operating theatre where radiographic facilities were unavailable. Additionally, postoperative radiographs were not obtained due to considerations related to the child's age and limited cooperation. Consequently, radiographic verification of pulpectomy quality and stainless‐steel crown placement was not feasible.

As this is a single case report, the findings are not generalizable and should be interpreted with caution. Nevertheless, this report underscores the importance of interdisciplinary collaboration in delivering safe and effective dental care, and highlights its potential to improve the oral health–related quality of life in children with CHARGE syndrome.

5. Conclusion

This case highlights the critical role of early and comprehensive dental intervention in children with CHARGE syndrome, where systemic comorbidities and anesthetic risks present considerable management challenges. Successful oral rehabilitation was achieved through meticulous planning and close collaboration among multiple specialties, emphasizing the inseparable link between medical and dental care. Beyond restoring oral function, the intervention contributed to meaningful improvements in overall quality of life of the child. These findings reinforce the necessity of integrating oral health into the broader multidisciplinary care framework for medically complex children.

Author Contributions

Dr. Sadia Iqbal and Dr. Manoj Jaiswal contributed to case analysis, investigation, diagnosis and treatment planning. Dr. Rathika Thomas and Dr. Rathod Parth Rajendra Bhai critically evaluated the case and helped in manuscript preparation and review. Dr Aditi Kapur and Dr. Pavithra Devi K contributed in the evaluation of the medical reports and manuscript review. Dr. Sadia Iqbal contributed in periodic follow up of the case and manuscript preparation. All authors have read and agreed to the current version of the manuscript.

Funding

No funding was received for this study

Ethics Statement

For all the procedures, the treatment plan was explained to the patient and his parent(s). We obtained the parent's written consent form to use his dental and medical records, radiographs, and photographs for publication purpose while maintaining the confidentiality of the patient and family.

Conflicts of Interest

The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Supporting information

Supporting Information File 1: scd70223‐sup‐0001‐SuppMat.pdf