Etiology:

AR – Familial aplastic anemia

Clinical:

• Kidney tubule dysfunction – no reabsorption. Glucose, bicarbonate, phosphorous, uric acid, potassium increased excretion in urine
• Strabismus
• Low set ears
• Hypopigmentation
• Abnormal or absent thumbs
• Dental anomalies
• Increased predisposition to squamous cell carcinoma

Management:

• Bone marrow replacement