Osteopetrosis (Q46606): Difference between revisions

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Osteopetrose ("doença do osso de mármore") é um termo descritivo que se refere a um grupo de doenças hereditárias raras do esqueleto, caracterizadas por aumento da densidade óssea nas radiografias. As condições osteopetróticas variam muito em sua apresentação e gravidade, variando de início neonatal com complicações com risco de vida, como insuficiência da medula óssea (como na osteopetrose autossômica recessiva clássica ou "maligna") até o achado incidental de osteopetrose em radiografias (por exemplo, osteopoiquilose).
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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).

Revision as of 15:18, 13 August 2026

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).
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    English
    Osteopetrosis
    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).

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