A rare manifestation of Fanconi anemia

Pooja Pradeep, Vindhiya K., Shiji R.


Fanconi anemia is an inherited pancytopenia, primarily inherited as autosomal recessive form. It occurs in all racial and ethnic groups. Majority of patients have both physical and haematological abnormalities, about one-third of patients will have normal physical features but abnormal haematological findings and unknown percentage have physical anomalies and normal haematological findings. The diagnosis is based on characteristic physical anomalies and abnormal haematological findings, which is confirmed with a lymphocytic chromosomal breakage study using Diepoxy butane (DEB). The report here is about a two and half years old female child who presented with physical features in the form of short stature, microcephaly, left hypoplastic thumb and congenital heart disease without haematological abnormalities. Chromosomal study was suggestive of Fanconi’s anemia.


Autosomal recessive, Fanconi anemia, Pancytopenia

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Andrea AD, Grompe M. The Fanconi anaemia/ BRCA pathway. Nat Rev Cancer. 2003;3:23-4.

Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet. 2001 Jun;2(6):446-57.

Winter JP, Joenje H. The genetic and molecular basis of Fanconi anaemia. Mutat Res. 2009;668:11-9.

Morgan NV, Tipping AJ, Joenje H, Mathew CG. High frequency of large intragenic deletions in the Fanconi anaemia group a gene. Am J Hum Genet. 1999;65:1330-41.

Kamalammal R, Kutty DN. Genetically proven fanconi anemia: a case report. Int J Contemp Pediatr. 2016 Dec 21;4(1):290-3.

Chandrasekharappa SC, Lach FP, Kimble DC, Kamat A, Teer JK, Donovan FX, et al. NISC comparative sequencing program. Massively parallel sequencing, ACGH, and RNA-seq technologies provide a comprehensive molecular diagnosis of Fanconi anaemia. Blood. 2013;121(22):138-48.

Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J. The clinical and radiological features of Fanconi’s anaemia. Clin Radiol. 2000;55:340-5.

Alina D, Daniela V, Bulucea D. Fanconi anaemia-case report of rare aplastic anemia at child. Acta Medica Marisiensis. 2014;60(3):125-8.

Tischkowitz MD, Hodgson SV. Fanconi anaemia. J Med Genet. 2003;40:1-10.

Andrea A. Susceptibility pathways in Fanconi anemia and breast cancer. N Engl J Med. 2010;362:1909-19.

McDermott DA, Fong JC, Basson CT. Holt-Oram Syndrome. 2004 Jul 20 [Updated 2015 Oct 8]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. Gene Reviews™. Seattle (WA): University of Washington, Seattle; 1993-2016. Available at: