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 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 8  |  Issue : 5  |  Page : 179-181  

Ellis–Van Creveld syndrome in siblings: A rare case report


1 Department of Oral Medicine and Radiology, Vinayaka Missions Sankarachariyar Dental College, Salem, Tamil Nadu, India
2 Department of Oral Medicine, Diagnosis and Radiology, Vinayaka Missions Sankarachariyar Dental College, Salem, Tamil Nadu, India
3 Department of Oral Medicine, Diagnosis and Radiology, Vivekanandha Dental College, Salem, Tamil Nadu, India
4 Department of Pedodontics, Vinayaka Missions Sankarachariyar Dental College, Salem, Tamil Nadu, India

Date of Submission06-Apr-2016
Date of Decision28-Apr-2016
Date of Acceptance06-May-2016
Date of Web Publication12-Oct-2016

Correspondence Address:
Dr. Sabitha Gokulraj
Department of Oral Medicine and Radiology, Vinayaka Missions Sankarachariyar Dental College, Salem, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-7406.191954

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   Abstract 

Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis–Van Creveld syndrome in siblings.

Keywords: Chondroectodermal dysplasia, Ellis–Van Creveld syndrome, siblings


How to cite this article:
Gokulraj S, Mohan N, Raj J B, Ahamed S Y, Stephen Arokiaraj C J, Subbulakshmi A C. Ellis–Van Creveld syndrome in siblings: A rare case report. J Pharm Bioall Sci 2016;8, Suppl S1:179-81

How to cite this URL:
Gokulraj S, Mohan N, Raj J B, Ahamed S Y, Stephen Arokiaraj C J, Subbulakshmi A C. Ellis–Van Creveld syndrome in siblings: A rare case report. J Pharm Bioall Sci [serial online] 2016 [cited 2020 May 25];8, Suppl S1:179-81. Available from: http://www.jpbsonline.org/text.asp?2016/8/5/179/191954

Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder which was initially described by Richard Ellis and Simon Van Creveld in the year 1940.[1] The syndrome is characterized by tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia and congenital cardiac defects.[2] Chondrodysplasia is characterized by disproportionate small stature and a variety of skeletal anomalies of which polydactyly is the most common. This reports a case of siblings of Ellis–Van Creveld syndrome. Reported incidence is 1,500,000 live births and in India it is even rare.[3]


   Case Report Top


A 4½-year-old female patient from parents of consanguineous marriage presented to our dental op with a chief complaint of missing teeth in the upper and lower front jaw region and unaesthetic appearance since birth. First tooth to erupt was the back tooth that too after 1½ years. There was difficulty in chewing and had slurred speech. Review of systems revealed that she was otherwise normal. Patient has undergone surgery 2 years back for bowed legs and her walk has improved.

On general examination, the patient had bowed legs. She showed stunted growth [Figure 1] and polydactyly in both the hands [Figure 2] and right leg with dysplastic nails. In the left leg the third and the fourth toes showed syndactyly [Figure 3]. Her brother who was 19 years old also had similar problem with stunted growth [Figure 1], polydactyly [Figure 2] in both the hands, syndactyly [Figure 3] of the left fourth and fifth toe with missing anterior teeth.
Figure 1: Stunted growth

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Figure 2: Polydactyly of the hands

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Figure 3: Polydactyly of the feet

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On intraoral examination of the girl showed partial hare lip [Figure 4] with obliteration of upper labiogingival sulcus, the mandibular arch showed multiple, high frenal attachments [Figure 5]. The tongue showed depapillation on the dorsal surface. Partial anodontia with conical shaped mandibular lateral incisors was also present. The boy also showed partial hair lip [Figure 4], missing anterior teeth with multiple high frenal attachments [Figure 5].
Figure 4: Hare lip

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Figure 5: Intraoral examination

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Investigations were carried out. Examination of the heart revealed to be normal [Figure 6]. Complete skeletal survey was done for both of them which revealed postaxial bilateral polydactyly. The girl's wrist joint anteroposterior view shows that the fourth and fifth metacarpals are fused on both sides with decreased bone density in the metacarpals [Figure 7] and [Figure 8]. Orthopantamograph of the boy and girl reveals missing maxillary and mandibular anterior teeth, conical mandibular laterals [Figure 9].
Figure 6: Chest radiograph - Posteroanterior view

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Figure 7: The boys hand wrist radiograph shows fusion of fourth and fifth metacarpals on both sides

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Figure 8: Anteroposterior view of feet shows decreased bone density in tarsal and metatarsal bones

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Figure 9: Orthopantamograph

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   Discussion Top


Ellis–Van Creveld syndrome or chondroectodermal dysplasia syndrome is an uncommon disease inherited as an autosomal recessive trait with the incidence of 1:244,000 of the total population.[4] Chondrodystrophy is the most consistent clinical feature which is due to a defect in ossification that results in short stature and limb shortening which is more striking in the distal rather than proximal extremities.[5] Polydactyly is always present with typical postaxial hexadactyly of the hands and in few cases feet.[6]

All three embryonic layers appear involved in Ellis–Van Creveld syndrome.[7] The signs of ectodermal dysplasia is usually limited to nails, teeth, and gums. Endodermal involvement is notvery common but sometimes affects the liver and lungs. Abnormalities of heart and kidneys indicate mesodermal involvement.[8]

Partial harelip, maxillary alveolar clefts, abnormal tooth shape (conical teeth), size (micro/macrodontia), structure (enamel hypoplsia), number (missing teeth/fused teeth), site of implantation (disorderly arranged and irregular spacing), multiple labial frenum, obliteration of the labiogingival sulcus are all pathognomonic and should be used in primary diagnosis.[9]

Cardiac defects are found in 50–60% of patients with a common atrium and persistent atrioventricular canal being the most common defects.[10] Patient ductus arteriosus, ventricular septal defects and atrial septal defects could also be present.

Radiological features comprise a narrow thoracic cage and wide, spade-like anterior ends. The pelvis has square iliac ala and “trident acetabulum.” Limbs have shortened long bones, with wide diaphyses and metaphyses. Proximal and middle phalanges are short with cone shaped epiphyses.[11]

Ellis–Van Creveld syndrome or chondroectodermal dysplasia has been mapped to chromosome 4p16.[12] The differential diagnosis of Ellis–Van Creveld syndrome includes thoracic dysplasia of Jeune, Weyers acrofacial dysostosis, K/C kusick- Kaufman syndrome More Details, thoracic cage deformity, chondrodysplasia punctata, asphyxiating thoracic dystrophy.


   Summary Top


Ellis–Van Creveld syndrome or chondroectodermal dysplasia of the siblings showed bilateral ploydactyly, partial hare lip, multiple labial frenum, obliteration of the labiogingival sulcus, partial anodontia, conical teeth with stunted growth all of which are pathognomonic for the dignosis. The management of patients with EVC requires a multidisciplinary approach which includes many specialties such as the pulmonologist, cardiologist, orthopedician, oral and maxillofacial surgeon, pediatrician, pedodontist, prothodontist, and radiologist along with oral and maxillofacial radiologist. This article has presented a case of siblings of EVC syndrome. This case reportenlightens the awareness of EVC syndrome though very rare is still a possibility.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names 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.

 
   References Top

1.
Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 2000;24:283-6.  Back to cited text no. 1
[PUBMED]    
2.
Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet 2003;72:728-32.  Back to cited text no. 2
[PUBMED]    
3.
Blackburn MG, Belliveau RE. Ellis-van Creveld syndrome. A report of previously undescribed anomalies in two siblings. Am J Dis Child 1971;122:267-70.  Back to cited text no. 3
[PUBMED]    
4.
Ellis RW, van Creveld S. A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: Report of three cases. Arch Dis Child 1940;15:65-84.  Back to cited text no. 4
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5.
Varela M, Ramos C. Chondroectodermal dysplasia (Ellis-van Creveld syndrome): A case report. Eur J Orthod 1996;18:313-8.  Back to cited text no. 5
[PUBMED]    
6.
Sharma OP, Saraf R, Gupta B. EVC syndrome (a case report). Indian J Radiol Imaging 2006;3:325-7.  Back to cited text no. 6
    
7.
Biggerstaff RH, Mazaheri M. Oral manifestations of the Ellis-van Creveld syndrome. J Am Dent Assoc 1968;77:1090-5.  Back to cited text no. 7
[PUBMED]    
8.
Sajeev CG, Roy TN, Venugopal K. Images in cardiology: Common atrium in a child with Ellis-Van Creveld syndrome. Heart 2002;88:142.  Back to cited text no. 8
[PUBMED]    
9.
Popli MB, Popli V. EVC syndrome. Indian J Radiol 2002;12:549-50.  Back to cited text no. 9
    
10.
Grainger RG, Allis DJ. Diagnostic Radiology. 11th ed., Vol. III. China: Chruchill Living Stone; 1992. p. 651-2.  Back to cited text no. 10
    
11.
Brueton LA, Dillon MJ, Winter RM. Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: Separate entities or disease spectrum? J Med Genet 1990;27:252-5.  Back to cited text no. 11
[PUBMED]    
12.
Beeghton P, editor. MC-Kusick's Heritable Disorders of Connective Tissue. St. Louis, Missouri: Mosby-Year Book, Inc.; 1993. p. 590-5.  Back to cited text no. 12
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]



 

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