Ellis-van Creveld Syndrome: A Case Report

Abstract

Ellis-van Creveld syndrome, also known as chondroectodermal dysplasia, is a complex genetic disorder caused by a mutation of particular genes. Its main physiological characteristics are dwarfism, polydactyly that includes additional fingers or toes, abnormal nail structure, and dental malformations. Dental manifestations include enamel hypoplasia and hypodontia. Patients with Ellis-van Creveld syndrome may also have heart defects that cannot be visually identified without specific diagnostic tools. The exact prevalence of this disorder remains poorly investigated because most risk groups are the Amish population that does not share personal information voluntarily. In this report, an eighteen-year-old young lady is presented with the chief complaint of poor appearance of teeth. The medical history includes ventricular hypertrophy and epilepsy. The patient had mandibular natal teeth that were removed. The first line of treatment was offered when the girl was seven, and standard check-ups and orthodontic manipulations were made within the last ten years. Overall, this case proves the importance of radiographic and physical examination, along with the multidisciplinary cooperation of dentists, surgeons, orthodontists, anesthetists, and cardiologists.

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Introduction

Ellis-van Creveld syndrome is an atypical and complex genetic disorder that is characterized by additional fingers or toes, abnormal development of nails and teeth, and skeletal transformations. The main cause of this disorder is a mutation of genes (EVC1 and EVC2). These gene mutations result in the production of abnormally small EVC and EVC2 proteins. Ellis-van Creveld (EVC) syndrome is thought to be due to mutation in the EVC gene and a nonhomologous EVC2 gene located in chromosome 4p16 head-to-head configuration1. All these mutations are commonly observed in people who have the classic phenotype. In addition to physiological abnormalities in the person’s fingers and toes, this syndrome’s characteristic features include bilateral ulnar polydactyly and short, usually disproportionate, length of long bones.2 Ectodermal abnormalities embrace the growth or absence of hair on some parts of the body (e.g., no eyebrows). 2 Heart defects are explained by the abnormal condition of the upper heart chambers.

The first case was reported by Ellis and van Creveld in 1940 and termed chondroectodermal dysplasia or meso-ectodermal dysplasia. 2 As a genetic disorder, Ellis-van Creveld syndrome was thoroughly studied among siblings and relatives to identify common (partial cleft lip and partial anodontia) and distinctive (extra fingers or toes) features and symptoms.3 Its prevalence varies from 1 to 7 in one million in the general population, but some communities (Amish) do not always report on this disorder officially, and all the cases remain poorly investigated.4 In the majority of patients with this diagnosis, no motor development and intelligence delays are observed. 4 However, nearly half of this population dies during childhood because of hardly controlled cardiopulmonary malformations. 4 Other distinctive features of this condition may include bowed legs with several toes showing syndactyly and stunted growth. 3 In this report, attention will be paid to one particular patient to investigate the main signs, family history, diagnostic and assessment techniques, and available treatment plans for Ellis-van Creveld syndrome.

Case Presentation

An eighteen-year-old Arab girl was admitted to the Orthodontics clinic, complaining of the poor appearance of upper teeth. The patient was the sixth child born and the third baby born diagnosed with Ellis-van Creveld syndrome. The girl’s elder brother was diagnosed with Ellis-van Creveld syndrome and died after birth; parental consanguinity was reported. Informed consent was obtained from the patient, and her parent (father) signed the letter. In the letter, the patient gave her consent for images and other clinical information related to her case to be used by the researcher. She underlined that she understood that her name and initials would not be mentioned in the study, and her anonymity and confidentiality were maintained. The material (medical records and photos) was defined as available to the general public, and no concerns from the patient or her family were revealed.

History

The patient had mandibular natal teeth that were exfoliated after three months and polydactyly, multiple supernumerary fingers that were surgically removed immediately after birth. The child was treated in the neonatal intensive care unit for 40 days under observation due to ventricular hypertrophy. The patient was diagnosed with epilepsy at a younger age and prescribed for appropriate medication for eight months; no further signs of epilepsy were noticed. The first visit to the dental and maxillofacial center was in 2008, at the age of 7 years. The patient was detected with multiple primary carious teeth (11, 21, and 22) as well as hypodontia. The teeth that were proved as affected by caries were restored, and a primary mobile tooth 31 was extracted.

Examination

The patient’s clinical features were characterized by dwarfism, hypoplastic nails, short ribs, and facial asymmetry slightly to the left. The extra-oral examination of the patient’s temporomandibular joint showed that the girl clicked on the right and had a moderate skeletal base with a competent lip and increased lower facial height. An intraoral examination showed that the patient had hypodontia with missing mandibular right and left central and lateral incisors and maxillary right lateral incisor and left central incisors. The child had retained deciduous maxillary left lateral incisors and mandibular right lateral incisors. Furthermore, the patient had a peg-shaped maxillary right central incisor while the upper right canine had a talon cusp. The primary purpose of managing the talon cusp is the reduction of the cusp and the developmental grooves. Gradual grinding with air abrasion was recommended to treat this anomaly and promote orthodontic retraction of the teeth.

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The client had a wide maxillary and mandibular labiogingival frenulum, prominent lower anterior edentulous ridge, average overbite complete to the tooth, and a reverse overjet of 3mm. Besides, there was the palatal displacement of the maxillary left second premolar, class III incisor relationship, and class 3 canine and molar relationships. The patient was seen by the orthodontist at the age of 17 years in 2018 for her dentition evaluation. Routine follow-ups with an orthodontic clinic and consideration of orthognathic surgery were recommended. All the third molars (1, 16, 17, and 32) were extracted in 2019 under general anesthesia by a professional team, including an oral surgeon, a cardiologist, and an anesthetist.

Radiographic Features

In 2015, a dental panoramic tomography showed that the patient had all permanent teeth except the mandibular left (23) and right (26) central and lateral incisors and maxillary right lateral incisor (7) that were missing. In general, there are many internal and external factors that define the necessity of panoramic radiography in children, including their general health condition and inborn syndromes and abnormalities. Still, in major cases, the first routine check-up is recommended at the age of 7 or 8 years, with the permanent teeth eruption. Some patients need to take this procedure at the age of 5 years to track the growth of all teeth and determine abnormalities, if any. The client had retained the mandibular right deciduous lateral incisor with retained maxillary left deciduous lateral incisor. A dental follicle in the location of the lower right third molar was seen, and its radiographic appearance was suggestive of malformation of 48.

A lateral cephalometric radiograph was taken in 2019; it showed class III incisor relationship to moderate skeletal three bases with increased lower facial height as described previously. Cone-beam computed tomography (CBCT) was done in 2019. It revealed the presence of all permanent teeth except the mandibular left and right central and lateral incisors and the maxillary right lateral incisor (7, 23, and 26). There were retained maxillary left deciduous lateral incisor (22) and mandibular right deciduous lateral incisor (42). It also proved the lower edentulous area in the mandibular incisor area, malformed upper right central incisor (11), and occlusal radio-opacity of maxillary right first molar (16) suggestive of a dental amalgam restoration.

At the initial diagnostic stages, several provisional diagnoses were revealed due to the presence of common symptoms. For example, Weyers syndrome is also associated with poor development of the patient’s teeth, nails, and bones. However, in the case of Weyer disorder, the patient should have small teeth or a reduced number of front teeth. 1,2 In the patient under analysis, all teeth were developed, and their extraction was explained by serious caries and natural weakness. Therefore, the final diagnosis, Ellis-van Creveld syndrome, was adequately justified, relying on radiographic results and other diagnostic means.

Treatment

At the age of 7 years, the first line of treatment was performed for the patient at the pedodontics clinic and followed up by the general dental practitioner for prevention of dental caries to improve oral hygiene and dietary analysis. At the age of 17 years, orthodontic treatment was initiated for the patient, with risks and benefits being explained. The girl was still undergoing fixed orthodontic appliances at the time of writing this case report. The care plan for this case involved a combination of several treatment approaches. Restorative treatment for malformed right central incisor and restoration of deciduous teeth to appear like permanent teeth was combined with prosthetic treatment for replacement of missing teeth and orthognathic surgery by the maxillofacial surgeon.

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Discussion

The complexity of Ellis-van Creveld syndrome was explained by the emergence of several physiological changes in the patient. In most cases, symptoms were observed during the first physical examination of the child or the gestational period. These changes included the presence of extra fingers (polydactyly), dwarfism (Figure 1), nail hypoplasia (Figure 2), and facial abnormalities such as asymmetry of the right or the left side of the face.1,5, 6, 7 Radiological prenatal ultrasound during gestational period was the main diagnostic tool. Nevertheless, panoramic radiography could also be used at a certain age. 7, 8 Medically, certain cardiovascular problems could be detected in about 50% of patients, and chest x-rays, electrocardiography, and electrocardiograms had to be recommended to analyze possible malformations and to offer a treatment plan.9 In addition to the above-mentioned, the patient with Ellis-van Creveld syndrome exhibited some dental features such as hypodontia and supernumerary teeth (Figure 3).1

Dental panoramic tomography was an important aid in diagnosis dentally (Figure 4). 1 This method showed that the patient with the syndrome under consideration could have all permanent teeth, but the maxillary lateral incisors and canines were absent or removed in childhood.1, 10 During the examination, the patient with polydactyly or dwarfism needed to consider the possibility of such differential diagnoses as Majewski syndrome, Beemer-Langer syndrome, Saldino-Noonan syndrome, and Asphyxiating Thoracic Dystrophy. 1 The reason for the offered syndromes’ differentiation lay in their etiology, being related to mutations of the same genes. The differences of these conditions matter and have to be recognized regarding their main characteristics. For example, the Majewski syndrome is characterized by polydactyly, as well as the syndrome under analysis.1 However, its main features are a dysmorphic face, short ribs, and a disproportionate head. Children with the Beemer-Langer syndrome have narrow thorax and horizontally oriented ribs. In the Saldino-Noonan syndrome, hydropic appearance is observed, and Asphyxiating Thoracic Dystrophy provokes short legs, hands, ribs, and stature in general.

In regards to dental treatment, patient and parent education and prevention strategies played a critical role. It was advised to visit dental clinics regularly and check the condition of the teeth. 7 Treatment in these types of patients’ needed a multidisciplinary team (orthodontic, pediatric, oral surgery, and restorative). Therefore, early diagnosis and treatment plan might contribute to a successful outcome. However, orthodontic input was the major element of dental health care. In this case, prevention was established in line with the Department of Health Preventative Toolkit, which included using fluoridated toothpaste with at least 1350ppm and reducing the frequency and amount of sugary food and drinks.11

Conclusion

The management of patients with Ellis-van Creveld syndrome is associated with an effort to gather a multidisciplinary team. This disorder was characterized by a complex nature, including several physiological changes like facial expression, extremity abnormalities, and heart-related problems, and associated emotional concerns. The majority of studies were developed to provide people with enough credible information but not to explain how to predict this disorder. However, with the help of the available diagnostic tools, examination, guidelines, and professionals of healthcare workers, it became possible to reveal other problems and identify the most effective treatment. To conclude, Ellis-van Creveld syndrome is a rare genetic disorder that produces significant physiological changes. Dental management aims to provide a high-quality operative treatment in collaboration with the dental team.

Features of dwarfism.
Figure 1: Features of dwarfism.
Hands with hypoplastic nails.
Figure 2: Hands with hypoplastic nails.
Malformed maxillary central incisors (11 and 21), missing mandibular right and left central and lateral incisors (31 and 41) as well as maxillary right (12) lateral incisor (22) and left central incisors (21), peg shaped maxillary right central incisor (11).
Figure 3: Malformed maxillary central incisors (11 and 21), missing mandibular right and left central and lateral incisors (31 and 41) as well as maxillary right (12) lateral incisor (22) and left central incisors (21), peg shaped maxillary right central incisor (11).
Dental panoramic tomography.
Figure 4: Dental panoramic tomography.

References

Qooz FS, Al Ghatam R. Ellis-van Creveld syndrome. Bahrain Med Bull. 2018; 40(4): 242-44.

Das AC, Azad MT, Chowdhury JF. Ellis-van Creveld syndrome: a case report. Bangladesh J Child Health. 2016;40(3):179-82.

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Gokulraj S, Mohan N, Raj JB, et al. Ellis-van Creveld syndrome in siblings: a rare case report. J Pharm Bioall Sci. 2016;8(1):179-81.

Guiguimdé WP, Agoda P, Bationo R, et al. Oral manifestations in Ellis-van Creveld syndrome: a case report. J Oral Med Oral Surg. 2018;24(2):76-80.

Khan I, Ahmed SA, Mohsin K. Ellis-van Creveld syndrome: a case report. J Pak Med Assoc. 2017;16(4):239-42.

Hirachan A, Bishal KC, Maskey A, et al. Late presentation of Ellis-van Creveld syndrome with common atrium anomaly: a case report in a Nepalese adult. J Adv Intern. Med. 2018;7(1):26-9.

Nazemisalman B, Salah S, Vahabi S, et al. Oral Ellis-van Creveld syndrome: a brief review of literature and a case report. J Dent Oral Implants. 2017;1(4). Web.

Naqash TA, Alshahrani I, Simasetha S. Ellis-van Creveld syndrome: a rare clinical report of oral rehabilitation by interdisciplinary approach. Case Rep Dent. 2018; 2018. Web.

Katti S, Oswal P, Vas A. Ellis-van Creveld syndrome: a rare case report. J Interdiscip Dent. 2019;9(1):35-8.

Peña-Cardelles JF, Domínguez-Medina DA, Cano-Durán JA, et al. Oral manifestations of Ellis-van Creveld syndrome: a rare case report. J Clin Exp Dent. 2019;11(3):290-5.

Davies G, Davies R. Delivering better oral health – an evidence-based toolkit for prevention: a review. Dent Update. 2008;35(7):460-4.

Ethical Approval: Approved by the Research Ethical Committee, Bahrain Defence Force Hospital, Bahrain.

Foonotes

  1. Qooz FS, Al Ghatam R. Ellis-van Creveld syndrome. Bahrain Med Bull. 2018; 40(4): 242-44.
  2. Das AC, Azad MT, Chowdhury JF. Ellis-van Creveld syndrome: a case report. Bangladesh J Child Health. 2016;40(3):179-82.
  3. Gokulraj S, Mohan N, Raj JB, et al. Ellis-van Creveld syndrome in siblings: a rare case report. J Pharm Bioall Sci. 2016;8(1):179-81.
  4. Guiguimdé WP, Agoda P, Bationo R, et al. Oral manifestations in Ellis-van Creveld syndrome: a case report. J Oral Med Oral Surg. 2018;24(2):76-80.
  5. Khan I, Ahmed SA, Mohsin K. Ellis-van Creveld syndrome: a case report. J Pak Med Assoc. 2017;16(4):239-42.
  6. Hirachan A, Bishal KC, Maskey A, et al. Late presentation of Ellis-van Creveld syndrome with common atrium anomaly: a case report in a Nepalese adult. J Adv Intern. Med. 2018;7(1):26-9.
  7. Nazemisalman B, Salah S, Vahabi S, et al. Oral Ellis-van Creveld syndrome: a brief review of literature and a case report. J Dent Oral Implants. 2017;1(4). Web.
  8. Naqash TA, Alshahrani I, Simasetha S. Ellis-van Creveld syndrome: a rare clinical report of oral rehabilitation by interdisciplinary approach. Case Rep Dent. 2018; 2018. Web.
  9. Katti S, Oswal P, Vas A. Ellis-van Creveld syndrome: a rare case report. J Interdiscip Dent. 2019;9(1):35-8.
  10. Peña-Cardelles JF, Domínguez-Medina DA, Cano-Durán JA, et al. Oral manifestations of Ellis-van Creveld syndrome: a rare case report. J Clin Exp Dent. 2019;11(3):290-5.
  11. Davies G, Davies R. Delivering better oral health – an evidence-based toolkit for prevention: a review. Dent Update. 2008;35(7):460-4.
  12. Ethical Approval: Approved by the Research Ethical Committee, Bahrain Defence Force Hospital, Bahrain.

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References

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