Ińiguez-Rodríguez MR, Vázquez-Lamadrid J

Language: Spanish
References: 0
Page: 285-290
PDF size: 254.41 Kb.

ABSTRACT

Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized: the infantile autosomal recessive osteopetrosis, the malignant and the intermediate forms, and adult/autosomal dominant osteopetrosis, type I and type II, the latter being the most common. The autosomal dominant osteopetrosis is usually discovered later in life and has a less severe manifestation. The aim of this case report is to present the clinical and radiographic features of a 38-year-old female patient with autosomal dominant osteopetrosis type II.