International Journal of Research in Medical Sciences | April 2015 | Vol 3 | Issue 4 Page 998 International Journal of Research in Medical Sciences Rai R et al. Int J Res Med Sci. 2015 Apr;3(4):998-1001 www.msjonline.org pISSN 2320-6071 | eISSN 2320-6012 Case Report Fanconi anemia: in all its glory Rajesh Rai, Keya Lahiri, Pallavi Gahlowt, Vasundhara Chugh, Anand Bhattar* INTRODUCTION Fanconi Anemia (FA) is a rare genetic disorder characterized by progressive bone marrow failure, 1 variable congenital anomalies and a high predisposition to acute leukemia and other malignancies. 2 FA shows severe genetic heterogenicity, although the proteins encoded by FA-related genes are considered to work together in a common pathway that regulates cellular resistance to DNA cross-linking agents. At least 15 genes have been identified that are responsible for FA complementation groups: FANCA, FANCB, FANCC, BRCA2 (FANCD1), FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCM, BRIP1 (FANCJ or BACH1), FANCL, RAD51C (FANCO), and SLX4 (FANCP), PALB2 (FANCN). 3-5 Abnormalities of FA genes are inherited as autosomal recessive, except for FANCB mutations, which are inherited in an X-linked manner. Molecular diagnosis of FA is very complicated because at least 15 genes are associated with its development & the mutation spectra of most FA- associated genes are very diverse. Some of these genes frequently contain large deletions or duplications. 6 CASE REPORT An 8-year-old male presented with complaints of not gaining weight and repeated episodes of vomiting since one year. He was a full term, normally delivered child. Physical examination of the patient revealed microcephaly, short stature, triangular facies, epicanthal folds, wide nasal bridge, bat ears (Figure 1), hyperpigmented tongue (Figure 2), microglossia, micrognathia, Sprengel’s deformity (Figure 3), absent right thumb (Figure 4), rudimentary left thumb (Figure 5), genu valgum and bilateral retractile testis. He had multiple café-au-lait spots on left shoulder (Figure 6), left arm and both thighs. His initial complete blood cell count results showed white blood cell: 3.5×10 9 /L; hemoglobin: 5.5 g/dL; platelets: 29 × 10 9 /L. Repeat hemogram indicated persistent thrombocytopenia. Peripheral smear showed macrocytic, normochromic erythrocytes. Bone 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. Keywords: Fanconi anemia, Sprengel’s deformity, Short stature, Absent thumb Department of Paediatrics, D. Y. Patil University School of Medicine, Navi Mumbai, Maharashtra, India Received: 07 February 2015 Accepted: 24 February 2015 *Correspondence: Dr. Anand Bhattar, E-mail: dranandbhattar@gmail.com Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. DOI: 10.5455/2320-6012.ijrms20150438