LD24.10
Osteopetrosis
Osteopetrose
CategoryDefinition
Osteopetrosis ('marble bone disease') is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterised by increased bone density on radiographs. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (as in classical or 'malignant' autosomal recessive osteopetrosis) to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis).
Index Terms
Osteopetrosisivory bonesmarble bone diseasemarble bonesAutosomal dominant osteopetrosis type 1Autosomal dominant osteopetrosis type 2Albers-Schönberg osteopetrosisAlbers-Schönberg syndromeAlbers-Schönberg diseaseAutosomal recessive malignant osteopetrosisOsteopetrosis with renal tubular acidosisInfantile osteopetrosis with neuroaxonal dysplasiaOsteomesopyknosisIntermediate osteopetrosis