Fanconi Anemia in a pediatric patient
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Abstract
Fanconi Anemia (FA) is a rare genetic autosomal-recessive disorder characterized by progressive spinal depression, morphological alterations such as café-au-lait spots, absence of fingers, genital atrophy, hypogonadism, short stature, susceptibility to myelodysplastic events, among others. We report a 10-year-old patient who sought medical care for evaluation of phimosis and bilateral retractile testis. There was an absence of the first right finger, café-au-lait spots, and syndromic facies, in addition to thrombocytopenia and abdominal pain. The chromosomal fragility test confirmed the clinical suspicion of FA. The investigation is complex and clinical evidence is essential for confirmation. The most appropriate treatment is bone marrow transplantation, which may lead to resolving hematological symptoms, as was the case in question.
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