Conclusion-
By the clinical findings of Mesomelia, Thumb hypoplasia, Renal agenesis, and investigations like Complete blood count and Mitomycin C sensitivity testing showed that this is a case of Fanconi Anemia.
Learning points-
  1. There should be more awareness and knowledge to common people about this disease. This should also include genetic counseling that is to be given to the parents about the possibility of transfer of genes to the next generation
  2. The definite treatment of Bone Marrow Transplant is not economically feasible for lower economic strata. Hence, to give feasible and subsidiary treatment, more research needs to be conducted.
  3. It helps us to differentiate Fanconi Anemia, from all other causes of severe anemia and pancytopenia, and to differentiate it from Ataxia Telangiectasia, Bloom syndrome and Paroxysomal nocturnal haemoglobinuria.
References