Dr. Sachin Bandichode*, Dr. Mrs. S. V. Savaskar**, Dr. P. V. Kumavat***
Department of Paediatrics, Dr. V. M. Government Medical College, Solapur.*, Department of Paediatrics, Dr. V. M. Government Medical College, Solapur.**, Department of Paediatrics, Dr. V. M. Government Medical College, Solapur.***
Introduction:Fanconi anemia (FA) is most frequently reported of the rare inherited bone marrow failure syndrome with more than 1200 cases reported in Medical literature. In 1927, Guidio Funconi first reported 3 brothers with pancytopenia and physical anomalies.

Other name: Fanconi Pancytopenia

Incidence: 2.5/105
An 11 years old boy, 1st issue of 2nd degree consanguineous marriage presented in emergency Dept. & H/o sudden epistaxis. After nasal packing, patient was referred to our department. He had following morphological features.
  • Short stature
  • Growth retardation
  • Small eyes
  • Hypoplastic thumbs
  • Bilateral radial club hands
  • Generalized hyperpigmentation
  • X-ray showed - bilateral absent radii
  • Absent first metacarpals
  • Bilateral radial club hand deformity
  • Hemogram - hemoglobin - 78 gm%
  • Total leucocyte count - 6500/cu mm
  • Platelet count < 50,000/cu mm
  • Bone marrow - pancytopenia

With these features, the case was diagnosed as FANCONI ANAEMIA.
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