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By Mary Ellen Eiler, Lynn Frohnmayer, Dave Frohnmayer, Kim Larsen and Joyce Owen

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Marrow dysplasia warrants careful evaluation by a hematopathologist with expertise in these rare syndromes. Significance of Clonal Abnormalities In FA patients, the relationship between clonal cytogenetic abnormalities and progression to leukemia is not always clear in a marrow without accompanying morphologic evidence of MDS. , monosomy 7) warrant careful evaluation and referral to a transplant center experienced in the treatment of FA patients. The most common cytogenetic abnormalities observed to date in FA patients involve chromosomes 1, 3, 4 or 7 (John Wagner, MD, University of Minnesota, personal communication).

Opportunities must be provided for family 34 Fanconi Anemia: Guidelines for Diagnosis and Management planning, prenatal diagnosis, and even preimplantation genetic diagnosis. Index of Suspicion Physical appearance The most frequent characteristic birth defects in FA, in descending frequency from approximately 50 to 20 percent, include skin hyperpigmentation and café au lait spots; short stature; abnormal thumbs and radii; abnormal head, eyes, kidneys, and ears. These data are from 1,865 case reports in the literature (Alter, unpublished) and are biased by under- and over-reporting because cases in the literature tend to focus on the unusual or more sensational findings.

Acknowledgement We extend our sincere gratitude to Margaret MacMillan, MD, University of Minnesota, for her expertise and leadership in chairing the discussion of the Clinical Management Checklist at the Consensus Conference in Chicago in April, 2008. Chapter 2 Diagnostic Evaluation of FA Blanche P. Alter, MD, MPH, FAAP Definition of Fanconi Anemia Fanconi anemia is an autosomal recessive disorder associated with a very high frequency of bone marrow failure, leukemia, and squamous cell carcinoma.

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