When the Babies Have Teeth With Carge Syndrome

Head Face up Med. 2020; xvi: 10.

CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation

Manogari Chetty

¹Faculty of Dentistry, University of the Western Greatcoat, Individual Bag X1, Tygerberg, Cape Town, 7505 Due south Africa

Tina Sharon Roberts

¹Faculty of Dentistry, University of the Western Cape, Private Pocketbook X1, Tygerberg, Greatcoat Boondocks, 7505 S Africa

Mona Elmubarak

¹Faculty of Dentistry, Academy of the Western Cape, Individual Bag X1, Tygerberg, Cape Boondocks, 7505 South Africa

Heidre Bezuidenhout

²Partition of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, University of Stellenbosch, Stellenbosch, South Africa

Liani Smit

²Sectionalisation of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, University of Stellenbosch, Stellenbosch, Southward Africa

Mike Urban

²Sectionalization of Molecular Biological science and Homo Genetics, Faculty of Medicine and Health Sciences, University of Stellenbosch, Stellenbosch, South Africa

Received 2019 May 31; Accepted 2020 Apr 27.

Abstract

Background

CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the CHD7 gene (OMIM 608892) at chromosome locus 8q12.

Case presentation

A South African female of mixed ancestry heritage, aged 4 years, was referred for dental assessment to the Faculty of Dentistry, University of the Western Cape, in 2018. She had a diagnosis of Accuse syndrome confirmed by a Medical Geneticist from the Segmentation of Molecular Biology and Homo Genetics at the University of Stellenbosch.

The patient had a long prior history of health and developmental problems, with the correct diagnosis becoming apparent over time. She presented with many oral and craniofacial features warranting consideration past the dentist including micrognathia, hypoplastic nasal basic, cranial nervus dysfunction, bruxism, craniofacial anomalies and compromised sensory perception. The treatment was mainly preventive and, although she fed through a percutaneous endoscopic gastrostomy tube (PEG), maintenance of her oral hygiene was necessitated.

Conclusion: CS is a multisystem condition and the optimal care for an individual is with a specialist multidisciplinary team. The numerous systemic bug affecting these individuals accept precedence in their care, and frequently at that place is neglect of their dental concerns. Given the abnormalities frequently nowadays in the oral and craniofacial region, the authors recommend that a team of dental and other medical specialists be involved in the management of individuals with CS.

Keywords: Dental, Genetic, Malformation, Skeletal

Background

The purpose of this commodity was to review the genetic aspects and dental direction challenges of CHARGE syndrome (CS) (OMIM #214800). The history, genetic groundwork, clinical diagnostic criteria of CS are delineated and a instance report is presented. The acronym "Accuse" refers to Coloboma, Eye defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness.

Accuse syndrome is a rare genetic disorder in which coloboma, choanal atresia or stenosis, cranial nerve dysfunction or anomaly and feature ear (external, middle or inner ear) are the major features [i]. Multiple anomalies affecting various organs systems including the cardiovascular and genitourinary systems contribute to the challenging medical management of affected persons [2]. The debilitating general health effects of CHARGE syndrome may be compounded by impairment in cognitive or intellectual operation, feeding adaptation and behavioural challenges [iii].. Charge syndrome is a rare genetic condition with an incidence of 1:12,000–15,000 live births [4]. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria [5].

The acronym CHARGE was conferred by Pagon et al.(1981) [6] to describe of import clinical features: Coloboma of the eye globe, Middle defects, Atresia of the nasal choanae, Retardation of growth and development, Genitourinary anomalies, and external Ear abnormalities and/or associated hearing loss.

It is at present understood that the CHARGE acronym provides an inadequate description of CS. Current clinical criteria rely on the presence of a combination of major and pocket-sized features, with the major features being more specific for CS. The most accustomed criteria are those described by Blake et al. (1998) [seven] and shown in Tableane. Depending on the number of criteria identified, either a definite or a probable/possible diagnosis of CS may be assigned.

Table one

Blake criteria for the diagnosis of CHARGE syndrome

Major criteria	Minor criteria
• Ocular coloboma • Choanal atresia or stenosis • Cranial nerve dysfunction or bibelot • Feature ear (external, middle or inner ear)	• Genital hypoplasia • Developmental delay • Cardiovascular malformation • Growth deficiency • Cleft lip and/or palate • Distinctive facial features
Definitive diagnosis of Accuse syndrome: • four major features OR • 3 Major and iii minor features Probable/possible diagnosis of CHARGE syndrome: • one–2 major features and several small features

The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the CHD7 gene (OMIM 608892) at chromosome locus 8q12 [7].

The CHD7 gene is involved in command of factor expression, particularly chromatin remodelling.

Changes in the CHD7 gene sequence which pb to absent-minded or reduced protein outcome in disrupted chromatin remodelling, ultimately leading to the multi-organ abnormalities establish in CS [eight]. CHD7 seems to be particularly important in decision-making the role of neural crest cells, which are pluripotent cells with migratory potential [9]. The neural crest has multiple vertebrate derivatives, including the craniofacial skeleton, the fundamental nervous system (CNS) and associated sensory organs, and parts of the heart. The consecration of the neural crest is adamant by signalling molecules such as BMP, WNT, FGF and retinoic acrid [1, 10, 11]. The process is controlled by a regulatory network of genes including CHD7. Disruption of neural crest development tin can result in several human being disorders known every bit neurocristopathies including those seen in CS [9].

Information technology has overlapping features with other neurocristopathies such as 22q11.2 deletion syndrome (likewise known every bit DiGeorge syndrome or velocardiofacial syndrome) and Kabuki syndrome, which are important differential diagnoses [four]. Utilize of molecular genetic testing allows less typical cases of CS to exist diagnosed and has broadened the phenotypic range of the condition.

The phenotype of CS is variable, with a broad range of possible clinical problems and affected organ systems [x]. Choanal atresia or stenosis causes breathing difficulty that may be life-threatening in the newborn period if both nasal passages are obstructed [12]. Ocular coloboma may cause visual arrears or blindness. Ear or vestibular nerve furnishings may impact on hearing and/or balance [4]. Other cranial nerve involvement may outcome in anosmia, abnormal facial expression, and difficulties with feeding and swallowing [xiii].

There may also exist a range of less specific effects. These include congenital heart defects, failure to thrive, delayed development, delayed puberty, tracheoesophageal fistula, kidney abnormalities; disorders of the immune system; scoliosis and limb anomalies may accompany the disorder facial asymmetry and crevice palate [xiii]. Still, not all individuals are affected by intellectual disability, the changes in sight, hearing and/or speech may cause significant learning bug and special needs.

In view of the wide range of organ systems involved, a multidisciplinary approach to management of afflicted children is necessary [14]. The pattern of built malformations and the specific health problems differ amid affected individuals. For these reasons, we describe the management of a patient with CS, with particular refers to the oral and dental features.

Example presentation

A South African female of mixed ancestry heritage, aged iv years, was referred to the Kinesthesia of Dentistry, University of the Western Greatcoat, for dental cess in 2018. A diagnosis of Charge syndrome was confirmed by a Medical Geneticist from the Division of Molecular Biology and Human Genetics at the University of Stellenbosch.

Diagnostic history

Prenatal i

The patient had a lengthy history of health and developmental problems, with the correct diagnosis becoming apparent over time. She was the 2nd child of a healthy not-consanguineous couple. The pregnancy was uneventful and without teratogen exposure. The fetal anatomy scan at xviii–22 weeks was missed, but at 36 weeks' gestation, the sonographic findings included: micrognathia, hypoplastic nasal os, right renal agenesis and polyhydramnios. Prenatal genetic testing for aneuploidies and 22q11.2 deletion was negative, and a working diagnosis of 'multiple congenital anomalies' was proposed.

Neonatal grade

She was born normally at 37 weeks', with nativity weight of 2980 k (25th centile), length of 45 cm (three-10th) and head circumference of 36 cm (xc-97th). In addition to the prenatal features, she had midface hypoplasia and bilateral ear anomalies (protruding ears, absent lobules). She needed mechanical ventilation from nascency and remained in the intensive care unit for 5 months. At three months, a tracheostomy was performed for upper airway obstruction, resulting from midface hypoplasia. She could neither breastfeed nor bottle-feed, and a PEG was inserted at 4 months.

The daughter had limited mouth movements, but an expressionless confront. She was unable to suck or swallow, and when oral feeding was attempted, she aspirated feed into her tracheostomy tube. There was minimal drooling. A oral communication and feeding therapist supervised a menses of oral stimulation, only her sucking and swallowing reflexes did not amend. Together, the findings indicated that she had bilateral palsies of cranial fretfulness 7, 9 and x. Feeding remained entirely via the PEG, although she occasionally liked to taste food past dabbing it on her tongue. Despite careful attending to diet, her growth decelerated postnatally, and all growth parameters amassed around the 3rd centile.

The eyes were normal externally, but an optic disc coloboma was detected. Audiological assessment indicated that she could localise audio but she required treatment for glue ear with grommets. Despite her prolonged health problems, her motor milestones progressed well - by 9 months of age she had a 2-calendar month deficit.

Her parents described her as a quiet child who had a adept relationship with her elder sibling and other children. At examination, she remained unable to talk, though this may have been a reflection of articulation difficulties resulting from cranial nervus palsies and the tracheostomy. She communicated quite well through gestures and understood verbal comments. The patient did non receive any chronic medication simply was recalled monthly to evaluate the patency of the PEG. Furthermore, she received antibody prophylaxis earlier any invasive procedure. Currently, she is managed by a multidisciplinary team which includes; occupational therapist, speech/feeding therapist, dietician, ophthalmologist, ENT surgeon, pulmonologist, neurodevelopmental paediatrician,medical geneticist and a dental team.

Neonatal investigations and diagnosis

During the neonatal menstruum, a chromosomal microarray showed no significant deletions or duplications of chromosomal material. However, an MRI brain browse showed non-specific changes consistent with 'brain shrinkage'.

A radiological contrast written report at iii months, indicated that the patient was completely unable to swallow liquids placed in the rima oris, however, there was normal peristalsis of contrast material injected into the oesophagus. Additional studies showed that dye in the mouth was aspirated into the trachea, but that there was no evidence of gastro-oesophageal reflux.

Based on clinical and investigation findings, the patient met the clinical criteria for a diagnosis of Accuse syndrome. The clinical diagnosis was corroborated past molecular investigations: sequencing of the CHD7 cistron showed a heterozygous pathogenic variant c.1977delC (p. Lys660Argfs*51).

Facial and dental assessment

The master dental complaint was bruxism, and her parents reported that they can hear her grind her teeth at nighttime. Her oral hygiene was poor as her mother wiped her mouth once every morning time using a gauze and saline.

On examination, the patient has square shaped confront, with mid-facial hypoplasia indicated by malar flatness and a small nose with anteverted nostrils. Her lips were incompetent with a short philtrum (Fig.1). The bilateral lower motor neuron facial nerve palsy resulted in the inability to brandish any facial expressions. She had marked micrognathia with a tracheostomy device in-situ, and had bilaterally protruding ears which lacked lobules (Fig.2). The shape of the face up and appearance of the ears are typical of CHARGE syndrome.

Patient has square shaped face, with mid-facial hypoplasia. Her lips were incompetent with a short philtrum

She had marked micrognathia with a tracheostomy device in-situ, and had bilaterally protruding ears that lacked lobules

The child was co-operative and sabbatum in the dental chair without any resistance. She understood instructions but was unable to open her mouth fairly for extensive examination and intra-oral clinical photographs and she did not tolerate certain dental instruments placed in her mouth. It was hard to gauge the strength of her mouth opening.

All principal teeth were nowadays. Although she had poor oral hygiene,visible plaque and generalized mild to moderate gingival hyperplasia, she was caires – free. The incisal border of her anterior incisor was chipped and in that location was fusion of her 81 and 82 teeth (Fig.three). Mild occlusal wear on her posterior teeth was axiomatic, consequent with her bruxing habit. Normal frenal attachment.

Plaque accumulation and generalized mild to moderate gingival hyperplasia is axiomatic. The incisal border of her inductive incisor was chipped and at that place was fusion of her 81 and 82

Dental treatment

The treatment is mainly preventive at this stage and, although she feeds through a PEG tube, her oral hygiene must be maintained to prevent caries and other pathology.

Oral hygiene education was provided to the mother who was advised to brush the child's teeth twice a day using a soft historic period-appropriate toothbrush. A simple rubbing technique was demonstrated. A smear layer of toothpaste was advised co-ordinate to the American Academy of Pediatric Dentistry guidelines [15]. Likewise, the use of floss if possible between tight contacts in her teeth.

Fluoride was practical on the second visit; an application of five% sodium fluoride (Clinpro white) varnish using a modest castor. The application of fluoride in accordance with the standard protocol of the establishment, because of the high caries prevalence in the demographic expanse. This is unremarkably attributed to poor oral hygiene practices and cariogenic diets of children routinely visiting the dental clinics at the Faculty of Dentistry, UWC. Furthermore, this patient was regarded as a "high risk" candidate for dental caries.

All intraoral examinations using only a mouth mirror were tolerated fleetingly. Ideally, a bite-plate would preclude her bruxism and inhibit excessive forces from beingness exerted on her temporomandibular joint. However, considering her general wellness conditions associated to her stage of development, she was unable to tolerate impression material in her mouth and information technology was decided that if accounted necessary, hereafter dental direction will be discussed with a multi-disciplinary dental team after eruption of her permanent teeth. Dental follow-up at six monthly intervals was arranged.

Discussion

Using the Blake criteria (1998) [seven], the patient had three major features and three small features of CS. The major features were ocular coloboma, characteristic external ear, and cranial nervus dysfunction. The minor features were developmental delay, growth retardation and characteristic face. This allowed a clinical diagnosis of 'definite CHARGE syndrome'.

The clinical diagnosis was after confirmed by genetic testing. A heterozygous variant in the CHD7 gene was isolated. Since CS results from pathogenic variant in a unmarried copy of CHD7, and the CHD7 gene is located on a non-sexual activity chromosome, the inheritance blueprint is autosomal dominant. In this instance, equally in about cases of CS, in that location was no family history. This is because the CHD7 mutation usually arises de novo in the afflicted individual, which also means that there is a low recurrence risk in a next pregnancy [16].

Oral health professionals treating children with CS syndrome should be mindful of the several systemic abnormalities associated with the status as well equally other potential challenges, which may influence dental intendance.

Dental anomalies establish in CS

Dental anomalies seen in CS are those of the shape of teeth includings taurodontism and anomalies of tooth number for example hypodontia and supernumerary teeth. Agenesis, malformations and ectopic eruption of the inductive teeth, in particular, could consequence in difficultly with voice and tongue co-ordination. However, the low incidence of this syndrome makes it hard to delineate a comprehensive dental picture [17]. The dental features reported in the literature were not axiomatic in our patient.

Challenges in the dental environment

Cranial nervus abnormalities

The patient presented many oral and craniofacial features warranting consideration past the dentist. Of particular clinical importance is the involvement of several cranial nerves. The nigh common cranial nerve abnormalities are those of cranial nerves V, 7, IX, X and XI [thirteen]. In our patient, the trigeminal nerve (5) was not evidently involved. The nervus innervates the muscles of mastication and provides taste to the inductive two thirds of the natural language. Our patient'due south ability to taste was preserved and she had express mouth opening. Her ability to chew could not be assessed, simply bruxism may be an indication that the muscles of mastication was strong.

Our patient's inability to swallow or to protect her airway may have been the result of interest of the glossopharyngeal (IX) and vagus (X) nerves. The clan betwixt CS,feeding difficulties and poor growth is well-documented [4, 13, 16]. Recently it has been documented that cranial nerve dysfunction was the primary clinical feature contributing to feeding difficulties the CS that may result in inadequate sucking, chewing and swallowing and aspiration [18]. Consequently, the presence of these problems in infancy may predict long-term feeding problems that warrants the continuous assistance of a feeding specialist.

Swallowing is a complex, coordinated sequence of activation of over 25 pairs of muscles in the rima oris throat and oesophagus that is controlled by vagus nerve [nineteen]. The swallowing procedure protects the airway from aspiration of the food bolus. Lacking swallowing in children with CS impede the protection of the airways. For this reason, oral wellness care workers are cautioned about the possibility of of choking or aspiration of dental material and the adventure of anaesthesia-related complications [10]. Blake et al.(2009) [20] assessed 147 anaesthetic events for children with CS and establish a 35% incidence of post-operative airways events, iv% of which were for dental procedures. They recommended combining multiple procedures under one anaesthetic wherever possible, as this did not increase the per-procedure risk of post-operative complications.

Bruxism

Bruxism is known to occur in CS. Inchingolo et al. (2014) [17] reported constant night bruxism in at least ii of seven cases. Young children self-stimulate in lodge to learn about their bodies and the environment. This need is more intense in children with multisensory impairment, a fact which may exist relevant to the development of bruxism in CS [21].

Sensory perception

The furnishings of CS on organs of sensory perception and advice are important for a dental practitioner. Problems with sensory receptors of the centre, the ear, and frequently also the vestibular appliance may make performance for the affected individuals very challenging, especially where astringent combined deficits of rest, hearing and vision impact on motor skills and communication [21]. Inside the realms of dentistry, appropriate therapy would necessitate shut collaboration with 'deafblind' specialists [22].

In our patient residual was normal, and vision and hearing not severely afflicted. However, advice was hampered by lack of facial expression and lack of speech, both expected to exist permanent. Although plastic surgery techniques may cosmetically improve facial expression, this may not be crucial since our patient does not drool and effectively uses gestures to convey emotion. While 75% of patients with CS have intellectual disability, in this patient the lack of speech may relate to articulation rather than intellectual difficulties. Cess by a neurodevelopmental paediatrician is essential, both to determine intellectual potential and to consider the role of alternative communication methods, for case using specific sign language or assisted communication devices.

Cerebral function

If there is dumb cognitive function, the effects on behaviour need to exist considered. In that location may be very goal directed and persistent behaviour, which often increases under stress. In addition, self-regulation may exist poor, with easy loss of behavioural control and difficulty shifting attention and moving onto new things. The anticipation of pain may lead to elevated levels of anxiety which tin can event in lowered tolerance to pain [23]. These factors need to be taken into account during dental exam and therapies. It may crave therapies to be adapted and guide dental surveillance on potential future dental needs.

Craniofacial anomalies

A number of other oral and dental features of CS have been previously described [17]. There is a short upper lip, with lip incompetence and oral animate. In a retrospective written report betwixt 1998 and 2016, Isaac et al. (2017) [24] reported that 11 of 44 patients with CS presented with a cleft of either the lip, palate or both. Infants with CS and clefts is at an increased risk for feeding difficulty and speech. Furthermore, animate may be obstructed past unilateral or bilateral choanal atresia.

Cranio-cervical junction abnormalities are mutual in CS [24]. These are demonstrated by a loftier prevalence of basioccipital hypoplasia and basilar invagination. Careful manipulation of the caput during dental management is necessary in society to forestall possible life-threatening consequences of basilar invagination.

Allergies

Kong and Martin (2018) [25] a loftier per centum of allergies in individuals with CS (approximately 48%). The allergens included food and drugs and manifested in contact allergies, rhinitis and asthma. In dental context, the use of gloves and dental materials may initiate atopic reactions in patients with CS and cautioned is required when treating them.

Conclusion

The dental and craniofacial anomalies often present in CS result in animate and swallowing difficulties, periodontal illness due to poor oral hygiene and the traumatic stimulation of bruxism, and the lack of co-ordination and paralysis of the facial musculature. Dentofacial orthopaedics mayhap delayed in patients who are medically unstable.

CS is a multisystem condition and the optimal intendance for an individual is with a specialist multidisciplinary team. The multiple systemic problems affecting these individuals take precedence in their care, and often there is neglect of their dental concerns. Given the abnormalities oftentimes present in the oral and craniofacial region, the authors recommend that a squad of dental and other medical specialists be involved in the management of individuals with CS. The dental practitioner, as part of this multidisciplinary team, tin add value to the care and quality of life of individuals with CS, but must besides mindful of the potential risks associated with such care, for example related to anaesthesia. This example report contributes to the limited published information on the dental concerns in this genetic status and highlights the need for further research.

Acknowledgements

Non applicable.

Consent for publication

Written informed consent was obtained from the patient'south parent for publication of this case study and any accompanying special investigations and images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Authors' contributions

Chetty, Thousand (PhD, Human Genetics), Assoc Prof: Made substantial contributions to the exam of dental management of patient, conquering of dental records, formulation, drafting and revising the manuscript. Roberts, T (PhD, Human Genetics), Dr.: participated in the design and drafting of the report and assisted in revising it for disquisitional content. Corresponding writer. Bezuidenhout, H (MBCHB) Dr.: Managed the medical condition of the patient and contributed to the content Genetic testing and clinical management of patient. Smit L, (MBCHB) Dr., Clinical evaluation and management of patient. Elmubarak, K (MSc,Dentistry), PhD candidate, Dr.: Dental management of patient. Urban Yard, (PhD Human Genetics), Prof: Participated in the examination of the patient, undertook the molecular investigations and provided guidance in the compilation and revision of intellectual content. All authors read and approved the final manuscript.

Availability of data and materials

All supporting data will be made available on request by the Editor-in-main.

Ethics approval and consent to participate

The patient's family unit gave consent for the compilation of this manuscript. All investigations were undertaken in accord with the Proclamation of Helsinki every bit updated in the version promulgated in June 2013 and the Singapore Argument on Research Integrity. No upstanding approval was required for this manuscript.

Competing interests

The authors declare that they have no competing interests. The content of this article is the sole work of the authors. No benefits of whatsoever form have been or are to be received from a commercial party related directly or indirectly to the subject of this article.

Footnotes

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Contributor Information

Manogari Chetty, Email: az.oc.bewm@yttehcmrd.

Tina Sharon Roberts, Email: moc.liamg@rochcraeser, Email: az.ca.cwu@strebort.

Mona Elmubarak, Email: moc.liamg@karabumle.south.one thousand.

Heidre Bezuidenhout, Email: moc.liamg@berdieh.

Liani Smit, Email: az.ca.nus@inail.

Mike Urban, Email: az.ca.nus@nabru.

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