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Score of Auerbach et al for Fanconi's Anemia Based on the International Fanconi Anemia Registry (IFAR)

Purpose: To evaluate a patient for phenotypic features of Fanconi's anemia using the simple score of Auerbach et al.

Evaluation

Are you evaluating a patient for phenotypic evidence of Fanconi's anemia?

Does the patient show growth retardation (short stature)?

Does the patient have birthmarks (café-au-lait sports, hyperpigmentation)?

Are there congenital malformations of the kidney or urinary tract?

Does the patient have microphthalmia (short palpebral fissures)?

Does the patient have a learning disability?

Does the patient have thrombocytopenia?

Does the patient have unilateral or bilateral malformations involving the thumb and/or radius?

Are other skeletal malformations present?

Results

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Specialty

Objective

ICD-10