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How many fingers should be there to be a competent electrician?-two cases of ectrodactyly
  1. Chandrasekharan Rajasekharan,
  2. Thomas Nishanth
  1. Department of Internal Medicine, Medical College Hospital, Thiruvananthapuram, Kerala, India
  1. Correspondence to Professor Chandrasekharan Rajasekharan, drcrajasekharan{at}yahoo.com

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Description

Two patients, a 74-year-old electrician and a 54-year-old male plumber were admitted for cardiac disease. Both the patients reported no disability in doing their job effectively. Both patients improved with treatment. The first patient was having bilateral ectrodactly with partial involvement of the feet, showing aplastic index middle and hypoplastic ring finger on the right side and absent ring finger on the left side (bilateral Lobster-claw deformity). The third toe is absent on the left foot (figure 1A). The second patient presented with hypoplasia on the left index middle and ring finger with sparing of the toes. In both these patients, there was no evidence of any other congenital malformations (figure 1B). Ectrodactyly-ectoderm dysplasia-clefting syndrome (EEC) is an example of ectrodactyly syndrome accompanied by multiple organ defects. Ectrodactyly, also known as split-hand/split-foot malformation (SHFM) is a rare genetic condition characterised by defects of the central elements of the autopod. It has a prevalence of 1:10 000–1:90 000 worldwide. The EEC syndrome is an X linked and autosomal dominant disorder with variable expressivity and reduced penetrance.1

Figure 1

(A) The first patient was having bilateral ectrodactly with partial involvement of the feet, showing aplastic index middle and hypoplastic ring finger on the right side and absent ring finger on the left side (bilateral Lobster hand deformity). The third toe is absent on the left foot (patient showing aplastic index middle and hypoplastic ring finger on the right side and absent ring finger on the left side). The third toe is absent on the left feet. (B) The second patient had hypoplasia on the left index middle and ring finger with sparing of the toes. In both these patients there was no evidenceof any other congenital malformations.

Learning points

  • A patient with isolated ectrodactyly can live near normal life except for the social stigma which constitutes to major challenges to survival of such patients.

  • It is important to screen patients for ocular manifestations as progressive visual impairment may be the most disabling feature of the syndrome.2

Acknowledgments

To both of my patients

References

View Abstract

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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