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SYNDROME
Year : 2007  |  Volume : 25  |  Issue : 5  |  Page : 5-7
 

Ellis Van Creveld syndrome


Department of Pedodontics and Preventive Dentistry, Govt. Dental College, Rohtak - 124 001, Haryana, India

Correspondence Address:
S Shilpy
Department of Pedodontics and Preventive Dentistry, Govt. Dental College, Rohtak - 124 001, Haryana
India
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Source of Support: None, Conflict of Interest: None


PMID: 17921643

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   Abstract 

Ellis Van Creveld syndrome is a rare disorder and is a form of short-limbed dwarfism. It is an autosomal recessive disorder characterized by tetrad of disproportionate dwarfism, post-axial polydactyly, ectodermal dysplasia and heart defects. This case report presents a classical case of a seven-year-old boy with Ellis Van Creveld syndrome presented with discrete clinical findings.


Keywords: Autosomal recessive, dwarfism, heart defects, polydactyly


How to cite this article:
Shilpy S, Nikhil M, Samir D. Ellis Van Creveld syndrome. J Indian Soc Pedod Prev Dent 2007;25, Suppl S1:5-7

How to cite this URL:
Shilpy S, Nikhil M, Samir D. Ellis Van Creveld syndrome. J Indian Soc Pedod Prev Dent [serial online] 2007 [cited 2019 Nov 15];25, Suppl S1:5-7. Available from: http://www.jisppd.com/text.asp?2007/25/5/5/34737



   Introduction Top


This syndrome was first described by Richard W. B. Ellis of Edinburgh and Simon Van Creveld of Amsterdam in 1940. [1] In general population the incidence is reported as one per 60000 live births with an increased incidence of five per 1000 live births in old Amish population of Pennsylvania. [2] The frequency of carriers in this population may be as high as 13%. The sex predilection of this syndrome is the same in males and females. It has an autosomal recessive inheritance and EVC gene has been mapped to chromosome band 4p16 using linkage analysis of nine interrelated Amish pedigrees and in three unrelated families from Mexico, Ecuador and Brazil, [3] with 25% chance in each pregnancy.

This syndrome is also known as chondroectodermal dysplasia [4] and is characterized by a number of ectodermal disturbances including involvement of nails and teeth as well as chondrodysplasia. Patients show characteristic presence of short limbs, genuvalgum, postaxial polydactyly and heart defects. Other uncommon anomalies may include urinary tract anomalies, congenital cataracts, cryptorchidism and hypospadias. The associated cardiac anomalies of Ellis Van Creveld syndrome have a very high mortality rate with death in infancy in 50% of patients, although the survivors can have a normal life expectancy. [5]

Most frequent oral findings include neonatal teeth, partial anodontia, peg-shaped teeth, delayed eruption of teeth and early involvement with caries. [6] The presence of short upper lip, which is bound by frenula to alveolar ridge (lip tie), as well as other defects in mandibular alveolar ridge are also very common.


   Case Report Top


A 7-year-old male patient of Indian ethnicity reported with chief complaint of pain in upper and lower jaws, which was accompanied by appearance of sinus tract in alveolar mucosa. Patient's medical history revealed that he was a known case of congenital heart disease with a single atria and cardiomegaly (which later on progressed to congestive heart failure) and was under medication for his cardiac problems. History also revealed that he had difficulty in walking due to abnormal shape of legs, which were then surgically corrected at the age of one year. Dental history revealed delayed eruption of teeth and multiple appearances of sinus tract, which regressed on taking medication and then reappeared at a new site in a few days time.

General examination revealed that growth of the patient was retarded [Figure - 1] as compared to the normal child of his age. Both the hands [Figure - 2] and feet [Figure - 3] were short and exhibited the presence of additional digits (polydactyly). Intra-oral examination [Figure - 4] revealed that most primary teeth and mandibular first permanent molars and incisors were carious with bilateral enlargement of submandibular lymph nodes. There was severe gingival inflammation in relation to maxillary and mandibular anterior teeth and sinus was seen in relation to the permanent first mandibular molar. Root canal treatment of the affected teeth was done and appropriate restorations were given to the patient. Patient was kept on recall for full mouth rehabilitation, but the patient did not report back. On enquiry, the unfortunate news of the sudden demise of the patient was reported.


   Discussion Top


Ellis Van Creveld syndrome or chondroectodermal dysplasia is another form of short-limbed dwarfism having autosomal recessive inheritance affecting the skeleton and skin. Lower limbs are primarily affected and deformed due to mesomelic shortening. It may also be associated with knock-knees or genuvalgum, which requires surgical correction. The hands are short and wide exhibiting polydactyly with additional finger next to fifth finger or pinkie finger, which is found in 100% of cases as compared to 10-25% of cases having additional finger present on the feet. [4] These characteristic limb anomalies were reported in our case with history of correction of genuvalgum at the age of one year. Other associated limb anomalies include short broad middle phalanges, hypoplastic distal phalanges, malformed carpals and hypoplasia of upper lateral tibia with knock knees.

Congenital heart defects [5] occur in about 50-60% of cases, the most common anomaly being common atrium found in 40% of patients. Other cardiac anomalies like cardiomegaly were also reported in this case, which may have lead to congestive heart failure and untimely demise of the patient.

Oral manifestations include fusion of middle portion of upper lip to the maxillary gingival margin eliminating the normal mucolateral sulcus. Intra-orally, presence of natal and neonatal teeth and congenital absence of teeth particularly in mandibular anterior segment can be seen. Tooth eruption is delayed and those erupted are generally malformed or are affected early by caries. In this case, history of delayed eruption of teeth and early involvement with caries was present but there was absence of fusion of upper lip with alveolar ridge. Other uncommon findings include Dandy walker malformation, urinary tract abnormalities, congenital cataracts, cryptorchidism and hypospadias. [7]

Ellis Van Creveld syndrome should be differentially diagnosed from two conditions with overlapping features like asphyxiating thoracic dysplasia and short rib polydactyly syndrome (Type III). [8] The central feature of asphyxiating thoracic dysplasia is small chest that appears long and narrow. The main distinguishing feature is asymmetrical presence of polydactyly in this syndrome but in this case there was symmetrical presence of polydactyly in hands and feet. The other condition, which should be considered due to common features, is short rib polydactyly syndrome (Type III). It is characterized by underdeveloped lungs, polydactyly, cleft lip and palate, kidney and intestinal malformations. Usually infants die at birth due to respiratory distress. But in this case the lungs, kidney and intestines of the patient were normal, thus, distinguishing it from short rib polydactyly syndrome.

Approximately 50% of the patients die in early age or infancy from cardiorespiratory problems and those who survive require multidisciplinary approach for treatment i.e., orthopedic correction of genuvalgum, amputation of extra digits, surgical repair of cardiac malformations and dental intervention for high caries risk individuals. As the condition is easily diagnosed at birth, early treatment can prevent patient from various complications and undue psychological trauma.

 
   References Top

1.Ellis RW, Van Creveld SA. Syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbius cordis: Report of three cases. Arch Dis Child 1940;15:65-9  Back to cited text no. 1    
2.Ide SE, Ortiz RI, Francomano CA, Polymeropoulos MH. Exclusion of the MSX1 homeobox gene as the gene for the Ellis Van Creveld syndrome in the Amish. J Hum Genet 1996;98:572-5  Back to cited text no. 2    
3.Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J, Pyeritz RE, et al . The gene for the Ellis Van Creveld syndrome is located on 4p16. Genomics 1996;35:1-5  Back to cited text no. 3  [PUBMED]  [FULLTEXT]
4.Kushnick T, Paya K, Mamunes P. Chondroectodermal dysplasia. Am J Dis Child 1962;77:103  Back to cited text no. 4    
5.Mody P, Garg P, Lall KB. Ellis Van Creveld syndrome. Indian J Pediatr 1998;65:1046-8  Back to cited text no. 5    
6.Winter GB, Geddes M. Oral manifestations of Ellis Van Creveld syndrome -Report of a case. Br Dent J 1967;103:122  Back to cited text no. 6    
7.Puri V, Misra PK. Ellis Van Creveld syndrome- A case report. Indian J Pediatr 1978;55:75-7  Back to cited text no. 7    
8.Scott CI. Dwarfism. Ciba-Geigy Clin Symp 1988;40:17  Back to cited text no. 8    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]


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    Abstract
    Introduction
    Case Report
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