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
|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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|Bandichode S D, Savaskar V S M D, Kumavat V P D.. Available From : http://www.pediatriconcall.com/fordoctor/ Conference_abstracts/report.aspx?reportid=240|