Ellis-van Creveld Syndrome

Case Report

Austin J Clin Case Rep. 2014;1(5): 1025.

Ellis-van Creveld Syndrome

Rajiv Ananthakrishna* and Abhijit V Kulkarni

Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences & Research, India

*Corresponding author: Rajiv Ananthakrishna, Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences & Research, Jaya Nagar 9th Block, BG Road, Bangalore 560069, India

Received: May 23, 2014; Accepted: June 30, 2014; Published: July 04, 2014

Abstract

Ellis-van Creveld syndrome is an autosomal recessive disorder characterized by short ribs, short limbs, postaxial polydactyly, ectodermal and heart defects. It is a rare disease caused by defects in the Ellis-van Creveld syndrome genes on chromosome 4. We highlight the typical clinical features of this syndrome.

Keywords: Clinical features; Congenital heart disease; Syndrome

Case Presentation

A 27-year-old female, was referred for evaluation of shortness of breath on exertion of 1 year duration. On examination, she was found to have short stature with a height of 125 cm. Evaluation of hands revealed polydactyly with hypoplasia of nails (Figure A). Syndactyly and clinodactyly are observed in the lower extremities (Figure B). Oral cavity examination disclosed absent maxillary incisors and malformed mandibular incisors (Figure C). The second heart sound was widely split and fixed, with a loud pulmonary component. Two dimensional transthoracic echocardiography was diagnostic of common atrium, with left to right shunt on colour Doppler imaging (Figure D). A clinical diagnosis of Ellis-van Creveld (EVC) syndrome was established based on the tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and congenital heart defects [1]. Patient was referred for surgical repair of common atrium.

Figure A :Examination of hands revealing polydactyly and hypoplasia of the nails (→).






Figure A : Examination of hands revealing polydactyly and hypoplasia of the nails (→).

Figure B :Syndactyly (↓) and clinodactyly (↕) noted in the feet.






Figure B : Syndactyly (↓) and clinodactyly (↕) noted in the feet.

Figure C :Visualisation of oral cavity demonstrating absent maxillary incisors and malformed mandibular incisors.






Figure C : Visualisation of oral cavity demonstrating absent maxillary incisors and malformed mandibular incisors.

Figure D :Two dimensional transthoracic echocardiography with colour Doppler imaging, illustrating single atrium and left to right shunt across the defect. (SA: Single atrium, RV: Right ventricle, LV: Left ventricle).






Figure D : Two dimensional transthoracic echocardiography with colour Doppler imaging, illustrating single atrium and left to right shunt across the defect. (SA: Single atrium, RV: Right ventricle, LV: Left ventricle).

Discussion

Ectodermal dysplasias are a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from embryonic ectoderm. The tissues primarily involved are the skin and its appendages and teeth. The common ectodermal dysplasias are listed in Table 1. In this report, we illustrate the classical clinical manifestations of EVC syndrome.

Table 1: 




  

    
 

      
Common ectodermal dysplasias

      		
  









Table 1:

EVC syndrome is a rare autosomal recessive condition, caused by defects in one of the two EVC syndrome genes (EVC and EVC2) on chromosome 4 [2]. EVC syndrome belongs to the short rib-polydactyly group. The distinguishing features in EVC syndrome include the combination of both skeletal and ectodermal dysplasia, with congenital heart disease. The spectrum of manifestations of EVC syndrome is highlighted in Table 2.

Table 2: .




  

    
Clinical manifestations of EVC syndrome

      
Constant findings

      
    
        
  • Chondrodystrophy    (disproportionate dwarfism, progressive distal limb shortening affecting the    forearm and leg).
    • 
        
  • Polydactyly    (bilateral and postaxial , observed in the hands in most cases and in the    feet in 10% of cases )
    • 
        
  • Ectodermal    dysplasia (Nails are hypoplastic, can be completely absent in some    cases.Tooth involvement may include 
    • 
      

      
neonatal teeth, partial anodontia, small teeth,    and premature eruption of malformed maxillary incisors). 

      
    
        
  • Congenital cardiac anomalies (most common anomaly is a common atrium). 
    • 
      

      
Other     manifestations

      
    
        
  • Polycarpaly (a ninth or tenth carpal bone),    clinodactyly (bent fingers) and syndactyly.
    • 
        
  • Musculoskeletal    anomalies (short ribs, narrow thorax, knock knees, lumbar lordosis). 
    • 
        
  • Genitourinary    anomalies (hypospadias, cryptorchidism, nephrocalcinosis, renal agenesis) 
    • 
        
  • Oral    manifestations (absence of mucobuccal fold , hyperplastic frenula, multiple    frenula, gingival hypertrophy ) 
    • 
        
  • Mental    retardation  
    • 
      

      
 

  

  

    
 

  









Table 2:

More than 50% of individuals with EVC syndrome have a congenital heart malformation, which is commonly a single atrium. The main determinants of longevity in EVC syndrome are the presence of heart disease and thoracic dysplasia. The management of such patients is multidisciplinary. This case highlights the typical manifestations of this rare syndrome.

References

  1. Baujat G, Le Merrer M. Ellis-van Creveld syndrome. Orphanet J Rare Dis. 2007; 2: 27.
  2. Ruiz-Perez V, Tompson S, Blair H, Espinoza-Valdez C, Lapunzina P, Silva E, et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet. 2003; 72: 728-732.

Citation: Ananthakrishna R and Kulkarni AV. Ellis-van Creveld Syndrome. Austin J Clin Case Rep. 2014;1(5): 1025. ISSN 2381-912X