“…Most cases of FA manifest anaemia symptoms during childhood. 3 It is associated with progressive bone marrow failure, congenital anomalies, growth retardation, hyperpigmentation of the skin, cafe au lait spots and a predisposition to malignancies, especially acute myelocytic leukemia and squamous cell carcinoma. 4 About 75% of patients with Fanconi anemia have birth defects, such as altered skin pigmentation and/or café au lait spots (>50%), short stature (50%), thumb or thumb and radial anomalies (40%), abnormal male gonads (30%), microcephaly (25%), eye anomalies (20%), structural renal defects (20%), low birth weight (10%), developmental delay (10%), abnormal ears or hearing (10%).…”