A 60-year-old man with a history of multiple fractures after minor trauma presents for evaluation of anemia with a hemoglobin level of approximately 9 g/dL. Other medical problems include chronic hypertension and worsening chronic kidney disease (CKD). His family history is remarkable for short stature and dental problems. Physical examination reveals a short male with blue sclerae (Figure). Iron levels are normal and ferritin is elevated. A kidney biopsy performed for renal dysfunction progressing more rapidly than expected reveals glomerulosclerosis compatible with hypertensive nephropathy. A bone marrow biopsy is negative for malignancy and shows elevated iron levels.
Munoz J, Hanbali A. Blue Sclerae. JAMA. 2012;307(12):1310–1311. doi:10.1001/jama.2012.363
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