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  • heterogeneous
  • Osteopetrosis is clinically and genetically heterogeneous, and a precise molecular classification is relevant for prognosis and treatment. (springer.com)
  • Osteopetrosis comprises a heterogeneous group of diseases as several forms are known with different models of inheritance and severity from asymptomatic to lethal. (hindawi.com)
  • complications
  • Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray . (nih.gov)
  • Adult osteopetrosis requires no treatment by itself, but complications may require intervention. (nih.gov)
  • mutation
  • Yet, the causative mutation is unknown in some patients, indicating that the genetics of osteopetrosis still deserves intense research efforts. (springer.com)
  • A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). (springer.com)
  • disease
  • Osteopetrosis is a rare hereditary bone disorder that presents in one of three forms: osteopetrosis tarda, osteopetrosis congenita and "marble bone" disease. (aafp.org)
  • Radiographs of the hip showed generalized sclerosis and increased radiodensity of the hip bones, with irregular subcortical and articular bone resorption suggestive of osteopetrosis with concomitant degenerative joint disease. (aafp.org)
  • In advanced cases, the osteosclerotic form of fluorosis may closely resemble the appearance of osteopetrosis, a "marble bone" disease in which the bones are dense, but fragile and prone to fracture. (fluoridealert.org)
  • Osteopetrosis, literally "stone bone", also known as marble bone disease, albers schonberg disease is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. (wikipedia.org)
  • Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients. (springer.com)
  • Osteopetrosis is therefore an osteocondensing disease. (hindawi.com)
  • Instead, we discuss recent findings regarding osteopetrosis and how the study of this disease has contributed to new understanding of functions associated with the skeleton [ 8 - 10 ]. (hindawi.com)
  • Osteopetrosis is a rare and complex disease without any current effective medical treatment, necessitating a multidisciplinary approach. (scielo.org.mx)
  • Osteopetrosis, also known as marble bone disease or Albers-Schonberg disease, is an extremely rare inherited disorder in which the bones harden and become denser but are still more brittle than normal bones. (dmoztools.net)