Hand Differences in Fanconi Anemia Scott H. Kozin, MD Shriners Hospital for Children Philadelphia, PA Kylie C Physical Anomalies with FA • Abnormal pigmentation 75% • Skeletal (Alter 1993) 60- 80% • Growth retardation 56% • Microcephaly 43% • Renal anomalies 28% • Strabismus 26% • Hypogonadism 22% Skeletal Anomalies • Upper Extremity 70% – 1° radial deficiency • Lower Extremity 4% • Spine 2% Radial Deficiencies • Total or partial absence of preaxial border • Variable phenotype • May be clue to early diagnosis Radial Deficiencies • Bilateral 50% • Incidence within the same family is small (5-10% of reported cases) Associated Syndromes • Holt-Oram syndrome (cardiac defects) • TAR (thrombocytopenia, absent radius) • Fanconi anemia (aplastic anemia) Associated Syndromes • VACTERRL (vertebral, anal atresia, cardiac, tracheoesophageal fistula, esophageal atresia, renal defects, radial dysplasia, lower limb abnormalities)