Osteopetrosis tipo II. (Inglés)

An asymptomatic 19-year-old man underwent a routine outpatient evaluation. He was born after a normal pregnancy and delivery. Both parents and two siblings (27 and 25 years of age) were in good health. His physical and mental development had been normal. He did not have visual or hearing disturbances. He had no history of fractures. The serum calcium, phosphorus, alkaline phosphatase, and creatinine levels were all within the normal range. Bone radiology demonstrated osteosclerosis primarily involving the axial and appendicular skeleton. A plain radiograph of the spine showed end-plate thickening and sclerosis producing the classic "sandwich vertebra" appearance. These findings...

The New England Journal of Medicine.Volume 354:849 February 23, 2006 Number 8.