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Year : 2003  |  Volume : 13  |  Issue : 4  |  Page : 393-394
Ellis van creveld syndrome : Report of two cases

IGMC and Mayo Hospital, Nagpur, India

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Keywords: Ellis-van-Creveld Syndrome, Polydactyly

How to cite this article:
Phatak S V, Kolwadkar P K, Phatak M S. Ellis van creveld syndrome : Report of two cases. Indian J Radiol Imaging 2003;13:393-4

How to cite this URL:
Phatak S V, Kolwadkar P K, Phatak M S. Ellis van creveld syndrome : Report of two cases. Indian J Radiol Imaging [serial online] 2003 [cited 2021 Jan 18];13:393-4. Available from:

   Introduction Top

Ellis Van Creveld syndrome was first described by Richard B Ellis of Edinburgh and Simon Van Creveld of Amsterdam. This autosomal recessive syndrome is characterized by disproportionate dwarfism acromesomelia, postaxial polydactyly, small thorax, Ectodermal dysplasia, and accompanied by high frequency of congenital heart disease. Pathophysiology of this syndrome is unknown, however recent indication of EVC gene may lead to, a better understanding Histopathological examination of fetuses of EVC syndrome revealed that the cartilage of long bones showed chondrocyte disorganization in physeal growth zone.[1]

   Case Report Top

Case No.1:

A six-month old baby girl was referred to investigate a case of symmetrical polydactyly in hands and cardiac murmur. There was no history of polydactyly in family. On physical examination finger nails appeared dysplastic. Midline cleft was seen in upper lip. Upper and lower limbs were shortened out of proportion to trunk. Skeletal survey was done. Radiography of Chest and skull were normal. However on echocardiography a small ASD was detected.

Case No. 2

A six-year old boy was referred for radiographs because of short limbs and polydactyly. On physical examination nails were dysplastic. Limbs were short Postaxial poludactyly was seen in hands. Radiograph of chest was normal. Echocardiography also showed no evidence of congenital heart disease.

   Discussion Top

Skeletal survey is always required to define skeletal anomalies. Expected findings are acromesomelia (relative shortening of distal and middle segment of limbs, most prominent in hands where the distal and middle phalanges are shorter than proximal phalanx, postaxial polydactyly is a constant feature, multiple varieties of carpal fusion, small iliac crest and sciatic notches, valgus deformity of knee, fibula disproportionately smaller than tibia, narrow thorax and short ribs [1],[3]. Congenital heart defects occur in approximately 50% cases. The most common of all is Atrial septal defect; other cardiac anomalis are ventricular septal defect, hypoplasia of aorta and single atrium. Finger and toe nails are hypoplastic or of unusual shape. Teeth abnormalities include teeth present at birth (natal teeth), missing teeth or peg shaped teeth. Prenatal ultrasound is an accurate means of diagnosis of dysplasia.[2] Its association with CNS and Renal anomalies has been described.[4]

   References Top

1.Ayela Laufer Cahana Ellis van creveld syndrome htm. E medicine journal March 8,2002 Vol 3, No. 3  Back to cited text no. 1    
2.M. B. Popli, V, Popli Ellis van creveld syndrome Indian J. Radiol Imaging 2002, 12:4:549-550.  Back to cited text no. 2    
3.Jack Edeikin, Philip J. Hodes Ellis van creveld syndrome In Roentgen diagnosis of bone second edition, Asian edition volume one The Williams and Wilkins company Baltimore 1967:93-95.  Back to cited text no. 3    
4.Rosenberg S, CarneiroPC, ZorbiniMC, GoenzalezCH: Brief clinical report: Chondroectodermal dysplasia with anomalies of CNS and urinary tract Am J. Med Genet 1983 Jun; 15(2): 291-5.  Back to cited text no. 4    

Correspondence Address:
S V Phatak
Amarjyoti X-ray and Sonographic Clinic, Wardha Road, Dhantoli Nagpur - 440012 MS
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Source of Support: None, Conflict of Interest: None

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  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7]

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