RT Journal
A1 Munoz J, Hanbali A
T1 BLue sclerae
JF JAMA
JO JAMA
YR 2012
FD March 28
VO 307
IS 12
SP 1310
OP 1311
DO 10.1001/jama.2012.363
UL http://dx.doi.org/10.1001/jama.2012.363
AB 
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.