Fanconi anemia: in all its glory

Authors

  • Rajesh Rai Department of Paediatrics, D. Y. Patil University School of Medicine, Navi Mumbai, Maharashtra
  • Keya Lahiri Department of Paediatrics, D. Y. Patil University School of Medicine, Navi Mumbai, Maharashtra
  • Pallavi Gahlowt Department of Paediatrics, D. Y. Patil University School of Medicine, Navi Mumbai, Maharashtra
  • Vasundhara Chugh Department of Paediatrics, D. Y. Patil University School of Medicine, Navi Mumbai, Maharashtra
  • Anand Bhattar Department of Paediatrics, D. Y. Patil University School of Medicine, Navi Mumbai, Maharashtra

Keywords:

Fanconi anemia, Sprengel’s deformity, Short stature, Absent thumb

Abstract

Fanconi Anemia (FA) is a rare autosomal recessive disorder affecting multiple body systems. The diagnosis is based on morphological abnormalities, hematological abnormalities (pancytopenia, macrocytic anemia & progressive bone marrow failure) and genetic testing. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large duplications, deletions or sequence variations are frequently observed in some of these genes. We report a patient with cytogenetically confirmed Fanconi anemia. Although morphological abnormalities were present from birth, diagnosis was suspected and made at 8 years of age when he presented to us. We report this case to create awareness among clinicians to use modern modalities of diagnosis for such cases in addition to the clinical assessment. This would further help these children reach their adulthood with good quality of life.

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Published

2017-01-07

How to Cite

Rai, R., Lahiri, K., Gahlowt, P., Chugh, V., & Bhattar, A. (2017). Fanconi anemia: in all its glory. International Journal of Research in Medical Sciences, 3(4), 998–1001. Retrieved from https://www.msjonline.org/index.php/ijrms/article/view/1426

Issue

Section

Case Reports