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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
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
To both of my patients
Competing interests None.
Patient consent Obtained.
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