Journal of Interdisciplinary Dentistry

CASE REPORT
Year
: 2019  |  Volume : 9  |  Issue : 1  |  Page : 35--38

Ellis–van creveld syndrome: A rare case report


Sandeep Katti, Pratima Oswal, Ancia Vas 
 Maratha Mandal's N.G.H Institute of Dental Sciences and Research Centre, Belagavi, Karnataka, India

Correspondence Address:
Pratima Oswal
Maratha Mandal's N.G.H Institute of Dental Sciences and Research Centre, Belagavi, Karnataka
India

Abstract

Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disease, with an incidence of 1:244,000 for the general population. The exact prevalence of this syndrome is unknown but believed to be a genetic chromosomal disorder with a higher incidence in women. EVC syndrome consists of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome, many other organs can be compromised with multiple oral manifestations of hard and soft tissues, but dental literature on the subject is scarce. Hence, we report a case of a patient, visiting Maratha Mandal's NGH Institute of Dental Sciences and Research Centre, Belgaum, seeking dental treatment presenting the typical features of EVC syndrome.



How to cite this article:
Katti S, Oswal P, Vas A. Ellis–van creveld syndrome: A rare case report.J Interdiscip Dentistry 2019;9:35-38


How to cite this URL:
Katti S, Oswal P, Vas A. Ellis–van creveld syndrome: A rare case report. J Interdiscip Dentistry [serial online] 2019 [cited 2019 Sep 21 ];9:35-38
Available from: http://www.jidonline.com/text.asp?2019/9/1/35/252526


Full Text



 Clinical Relevance to Interdisciplinary Dentistry



The cases such as Ellis-van Creveld (EVC) syndrome has to be treated with an interdisciplinary approach for its suitable diagnosis, management, and rehabilitation of such patients.

 Introduction



Ellis–van Creveld (EVC) syndrome was first described by Richard Ellis and Simon van Creveld in 1940.[1] EVC syndrome is also known as chondroectodermal dysplasia. Its occurrence is 1:244,000 for the general population. The prevalence is not known but believed to be a genetic chromosomal disorder and a higher incidence in women.[2]

EVC syndrome reflects four characteristic features:[3]

Acromesomelic dwarfism due to chondrodysplasia and narrow chest with short ribsBilateral polydactyly of the hands. The supernumerary digit usually presents on the ulnar side. Occasionally, a supernumerary toe may be presentHidrotic ectodermal dysplasiaCardiac anomalies in 50%–60% of cases.

EVC syndrome is a genetic disorder which has been identified as mutations in the EVC1 and EVC2 genes on the chromosome 4p16.[4] There is parental consanguinity in 30% of the cases.[5]

EVC syndrome shows a wide spectrum of oral manifestations, which is outrageous and constant. The most common findings are the presence of natal teeth in lower front region of jaw and the absence of mucobuccal fold due to fusion of the upper lip to the maxillary gingival margin. The lower front region of the alveolar ridge is often serrated with multiple small accessory labial frenula.[6] It also includes malocclusion, labiogingival adhesions, labiogingival frenulum hypertrophy, dental transposition, diastema, conical teeth, hypoplastic enamel, and hypodontia. Premature eruption of teeth at birth and premature exfoliation can also be seen; supernumerary teeth may also be present in few cases.[7]

 Case Report



A 27-year-old female patient visited our institution Maratha Mandal Dental College, Belgavi, with a chief complaint of enlargement of her gums for 7 months. There is no significant history of consanguineous marriage between parents. In their family, patient's younger sister shows similar features.

On general physical examination, the patient has a short stature (height = 118 cm) [Figure 1]; she is moderately built and poorly nourished. The patient's intellectual ability is within the normal range.{Figure 1}

The patient's mother noticed two natal teeth in patients' mouth at the birth which was present in her lower front region of jaw.

Extraoral examination revealed a convex facial profile [Figure 2], the hair is fine and does not have quantitative change, and the nails are hypoplastic. Hexadactyly was noted on the ulnar side of her left hand [Figure 3]. On the right hand ulnar side, a scar is present. The patient gives a history of surgical removal of an extra digit which was present over the right hand ulnar side.{Figure 2}{Figure 3}

Intraoral soft-tissue examination showed accessory small labial frenula and absence of mucobuccal fold in upper and lower anterior region of jaw [Figure 4], ankyloglossia [Figure 5], and generalized inflammatory enlargement of the gingiva. Gingival overgrowth present in the right lower back region of the jaw and papillary atrophy of tongue is seen [Figure 6].{Figure 4}{Figure 5}{Figure 6}

On intraoral hard-tissue examination, oligodontia is present which includes congenitally missing lower central and lateral permanent incisors [Figure 5], maxillary permanent canines, and first maxillary and mandibular permanent molars. Over-retained deciduous mandibular canines and lateral incisor and deciduous mandibular right second molar are also present.

Molars have abnormal cusps and accessory grooves; abnormal-shaped teeth are present. Midline diastema, high-arched palate, and hypoplastic enamel are also seen.

Radiographic examination

Panoramic radiography showed oligodontia of the permanent teeth and absence of permanent tooth buds with dysmorphic/conical shaped roots. Hand-wrist radiograph showed fusion of the head of the fifth metacarpal with the base of the sixth metacarpal of the left hand [Figure 7]. Lateral cephalogram shows hypoplasia (true retrognathia) of the mandible.{Figure 7}

Based on the clinical features and radiographic findings, the patient was diagnosed to have EVC syndrome. An interdisciplinary treatment approach is required with periodontist, oral and maxillofacial surgeon, orthodontist, and prosthodontist to correct the craniofacial and dental defects. The patient has been referred to the respective specialist for the treatment and is on a regular follow-up since then.

 Discussion



EVC syndrome or chondroectodermal dysplasia is an autosomal recessive disease with low incidence, and it has been seen in all races.[8] Our patient is daughter of nonconsanguineous and normally developed parents. The diagnosis can be made as early as 18th week of gestation by ultrasonography when the increased nuchal translucency is evident,[9] and later, it can be detected by clinical examination after birth.[10]

The most common clinical feature of EVC syndrome is acromesomelic dwarfism due to defect in ossification affecting tubular bones, which ultimately results in shortening of bones of the limbs, especially in distal and middle segments.[11]

Other characteristic features include polydactyly or hexadactyly usually bilateral postaxial which is most often present with upper limb and on the ulnar side of the hand. In 10% of cases, it can be seen in lower limbs.[12]

Our patient shows acromesomelic dwarfism with hexadactyly in the upper limb left-hand ulnar side. On the right-hand side, extra digit was present which was surgically removed in our patient 5 years back. Lower limb with no hexadactyly was found.

EVC syndrome individuals also have wide hands and feet, sausage-shaped fingers and dysplastic fingernails.[9] Other features include long narrow chest which is seen in our patient.

Congenital heart malformations are present in a 50%–60% of patients.[13] However, our patient's electrocardiography, echocardiogram, and chest X-ray are found to be normal. The disease has characteristic oral manifestations that help in its diagnosis.

The most common among them include the presence of natal teeth and fusion of the upper lip to the gingival margin resulting in the absence of mucobuccal fold, broad maxillary labial frenum described as partial harelip, multiple small accessory frenula, ankyloglossia, malocclusion, microdontia of teeth, oligodontia, anodontia (commonly congenital missing permanent mandibular central and lateral incisors), and enamel hypoplasia.[14]

These all findings are present in our patient.

Other unusual findings are seen in our patients those are gingival hyperplasia in the right lower back region of jaw and hypertrophic tongue.

The definitive diagnosis is genetic based where homozygosity for a mutation in the EVC1 and/ or EVC2 genes is detected by direct sequencing. However the gene mutation is positive in only 2/3rd of the patients.[4]

Due to the less availability of genetic studies, the diagnosis was made based on the clinical observation of the symptoms and oral manifestations as described and with the aid of additional tests such as radiology, laboratory, and cardiac function. Differential diagnosis includes Curry–Hall syndrome, Jeune syndrome, achondroplasia, orofaciodigital syndromes, and Morquio syndrome which are other short rib-polydactyly syndromes.[10]

 Conclusion



An interdisciplinary approach is always advised for suitable diagnosis, management, and rehabilitation of such patients. The dental surgeon has an important role in early diagnosis and establishing treatment protocols for better esthetic and function that improves the quality of life of these patients.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent her images and other clinical information to be reported in the journal. The patient understand that her name and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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