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Topic: Osteopetrosis

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	Osteopetrosis - Wikipedia, the free encyclopedia
		Osteopetrosis is an extremely rare inherited disorder whereby the bones harden, becoming denser.
		Normally, bone growth is a balance between osteoblasts (cells that create bone tissue) and osteoclasts (cells that destroy bone tissue).
		Sufferers of osteopetrosis have a deficiency of osteoclasts, meaning too much bone is being created.
	en.wikipedia.org /wiki/Osteopetrosis (174 words)

	Paget Foundation_Q&A
		In osteopetrosis the cells that break down bone, the osteoclasts, usually are fewer in number or are ineffective in removing bone.
		Malignant infantile osteopetrosis is inherited as an autosomal recessive disorder, where both parents have an abnormal gene that is passed to the affected child.
		Thus, the risk to a sibling of someone with osteopetrosis, whose parents have been examined and found not to have the disease is closer to 1:10.
	www.paget.org /Information/Qa/osteopetrosis.htm (1760 words)

	TheFetus.net - Osteopetrosis -Gustavo Malinger, MD, Asher Ornoy, MD, Raghda El Shawwa, MD, Haim Zakut, MD, Gertrude ...
		Pathogenesis: Osteopetrosis is caused by the inability of osteoclasts to reabsorb primary bone and calcified cartilage.
		We present the prenatal diagnosis of one case of lethal osteopetrosis in a fetus known to be at risk after the birth of two affected siblings that died before the age of 12 months.
		Presently, the prenatal diagnosis of osteopetrosis early in pregnancy is an indication for the termination of pregnancy.
	www.thefetus.net /page.php?id=366 (1083 words)

	Osteopetrosis
		Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases, skeletal abnormalities.
		Osteopetrosis with renal tubular acidosis, also known as carbonic anhydrase II deficiency and Guibaud-Vainsel syndrome, is a rare inherited disorder characterized by multiple fractures within the first two years of life.
		Osteopetrosis with renal tubular acidosis is inherited as an autosomal recessive genetic trait.
	hw.healthdialog.com /kbase/nord/nord354.htm (2290 words)

	Osteopetrosis, (generic term)
		Mild autosomal recessive osteopetrosis is one of the 4 types of human osteopetrosis that have been clearly identified.
		Osteopetrosis has been reported in most ethnic groups, although, as the disease is very rare, it is more frequently seen in ethnic groups where consanguinity is common.
		Infantile onset osteopetrosis should also be distinguished from the much milder autosomal dominant adult disease and the carbonic anhydrase II deficiency syndrome, which is associated with renal tubular acidosis and less severe osteopetrosis.
	www.orpha.net /static/GB/osteopetrosis.html (424 words)

	Osteopetrosis and osteoporosis:two sides of the same coin -- Lazner et al. 8 (10): 1839 -- Human Molecular Genetics
		The term osteopetrosis in humans is used to define a number of distinct diseases that can be classified on the basis of severity and age of onset into three major groups: infantile malignant osteopetroses, intermediate mild osteopetroses and adult onset osteopetroses.
		The gl/gl, oc/oc and mi/mi mice and ia rat all appear to arise from an intrinsic defect in the stem cell or osteoclast population, as the osteopetrosis is reversible by bone marrow transplantation (6,8,26,27).
		Pearce, L.W.H. (1948) Hereditary osteopetrosis of the rabbit.
	hmg.oxfordjournals.org /cgi/content/full/8/10/1839 (5435 words)

	Osteopetrosis Links, Articles, FAQ - Home Page
		Osteopetrosis is a rare congenital disorder (present at birth) in which the bones become overly dense.
		Osteopetrosis is a congenital disease characterized in each of its forms by defective osteoclast function.
		Benign osteopetrosis is genetically dominant, as opposed to the recessive transmission of malignant osteopetrosis.
	www.osteopetrosis.org /home.html (1074 words)

	HON Mother & Child Glossary, Hereditary Musculoskeletal Disorders: Osteopetroses
		Osteopetrosis is part of a spectrum of diseases characterised by generalised increase in skeletal density.
		Early-onset or precocious form of osteopetrosis is most frequently discovered during the first months of life; it may appear as failure to thrive, malignant hypocalcemia, anaemia with thrombocytopenia, or severe, perhaps overwhelming infection.
		This form of osteopetrosis is found in childhood, adolescence, or young adult life because of fractures (about 10% of patients), mild craniofacial disproportion, mild anaemia, complications arising from neurological involvement, or osteitis with osteonecrosis (usually of the mandible).
	www.hon.ch /Dossier/MotherChild/child_musculoskeletal/muscoskel_osteopetroses.html (471 words)

	Osteopetroses Encyclopedia of Medicine - Find Articles
		Osteopetrosis (plural osteopetroses) is a rare hereditary disorder that makes bones increase in both density and fragility.
		Osteopetrosis occurs when bones are spongy or porous, or new bone is repeatedly added to calcified cartilage (hardened connective tissue).
		Osteopetrosis is the result of a genetic defect that causes the body to add new bone more rapidly than existing bone disintegrates.
	www.findarticles.com /p/articles/mi_g2601/is_0009/ai_2601000998 (427 words)

	Information for Patients about Osteopetrosis -
		Osteopetrosis is a congenital condition present at birth in which the bones are overly dense.
		In osteopetrosis, the cells that break down bone, or the osteoclasts, usually are either fewer in number or are ineffective in breaking down bone.
		The malignant infantile form of osteopetrosis is seen in between 1 in 100,000 to 1 in 500,000 births.
	library.adoption.com /Health/.../article/5256/1.html (1608 words)

	Osteopetrosis definition - Medical Dictionary definitions of popular medical terms
		Osteopetrosis: Thickening of the bones which become abnormally dense due an inherited defect in bone resorption -- the process in which old bone is broken down and removed so that new bone can be added to the skeleton.
		Anemia, infection, and bleeding are just some of the symptoms that individuals with osteopetrosis can experience --blindness, deafness and even stroke can occur when the skeleton is so dense that blood vessels and nerves cannot pass through the bones.
		The survival rate after BMT in children with osteopetrosis is 40 to 70 % depending on how well matched the donor is to the patient.
	www.medterms.com /script/main/art.asp?articlekey=4685 (947 words)

	Osteopetrosis - Blood and Marrow Transplantation, Medical School, at the University of Minnesota
		While this form of osteopetrosis tends to be relatively mild, many people with this form of the disease suffer from many fractures.
		The heads of children with osteopetrosis are often enlarged, and on scans sometimes have increased size of the fluid-filled spaces in the brain.
		While some of the problems caused by osteopetrosis may improve, calcitriol doesn’t represent a cure for the disease, as the changes are not permanent, and patients may begin to worsen despite continuing on calcitriol.
	www.bmt.umn.edu /BMT/disease/Osteopetrosis.html (1567 words)

	uhrad.com - Musculoskeletal Imaging Teaching Files (Site not responding. Last check: 2007-10-25)
		The different forms of osteopetrosis are all characterized by failure of osteoclast to resorb bone, with resultant increase in the amount of bone.
		Osteopetrosis is generally subdivided into a precocious type (which is usually lethal), and a delayed type which may be relatively asymptomatic.
		An unusual form of osteopetrosis is the osteopetrosis with tubular acidosis or alternatively "marble brain", or Slys disease.
	www.uhrad.com /msiarc/msi036.htm (272 words)

	eMedicine - Osteopetrosis : Article by Anuj Bhargava
		Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone.
		A distinct form of osteopetrosis occurs in association with renal tubular acidosis and cerebral calcification due to carbonic anhydrase isoenzyme II deficiency.
		In adult osteopetrosis, surgical treatment may be needed for aesthetic reasons (eg, in patients with notable facial deformity) or for functional reasons (eg, in patients with multiple fractures, deformity, and loss of function).
	www.emedicine.com /med/topic1692.htm (3943 words)

	Personal practice: Autosomal recessive osteopetrosis: diagnosis, management, and outcome -- Wilson and Vellodi 83 (5): ...
		Autosomal recessive "malignant" osteopetrosis is a rare congenital disorder of bone resorption.
		Children with osteopetrosis have multiple handicaps and thus an accurate assessment of their cognitive function is difficult.
		Osteopetrosis: a clinical, genetic, metabolic, and morphological study of the dominantly inherited benign form.
	adc.bmjjournals.com /cgi/content/full/83/5/449 (2404 words)

	Osteopetrosis (malignant infantile form) (Site not responding. Last check: 2007-10-25)
		Some of the earliest symptoms may be a large head (macrocephaly), failure to thrive, low platelets, low hemoglobin, large liver or spleen from the body trying to make blood cells in these organs, or a seizure caused by a salt imbalance from low calcium.
		Osteopetrosis is predominantly inherited as an autosomal recessive disorder, meaning that the child must have two abnormal genes for MIOP.
		For a child to inherit an autosomal recessive disorder, such as osteopetrosis, each parent carries a gene that is abnormal for the disorder; thus, the parents are carriers for the disorder.
	www.stjude.org /disease-summaries/0,2557,449_2166_2944,00.html (926 words)

	Fluorosis & Osteopetrosis
		One of the most common radiological findings in skeletal fluorosis is osteosclerosis - a hardening of bones with a blurring of the trabecular structure.
		The osteosclerotic form of fluorosis may closely resemble the appearance of osteopetrosis.
		“Osteopetrosis is a rare hereditary bone disease of heterogeneous pathophysiology in which failure of osteoclastic bone resorption leads to
	www.fluoridealert.org /health/bone/fluorosis/osteopetrosis.html (290 words)

	InterMune - Severe, Malignant Osteopetrosis
		Severe, malignant osteopetrosis is a life-threatening, congenital disorder that primarily affects children.
		This disease results in increased susceptibility to infection and an overgrowth of bony structures that may lead to blindness and/or deafness.
		Actimmune® (interferon gamma - 1b) was approved by the FDA in February 2000 for delaying time to disease progression in patients with severe, malignant osteopetrosis.
	www.intermune.com /wt/itmn/actimmune_malignant_osteopetrosis (81 words)

	Osteopetrosis - Diseases and Conditions - Blood and Marrow Transplant
		Osteopetrosis is a congenital disorder characterized by defective or absent osteoclasts, the cells that break down bone.
		While this form of osteopetrosis tends to be relatively mild, many people with this form of the disease suffer from many fractures. They may have many dental problems, and sometimes bone infections are seen, especially in the jaw. Some people also have difficulty with loss of vision as well.
		Physical and Occupational Therapy. Children with severe osteopetrosis have a heavy skeleton that causes delays in the development of physical abilities such as walking. The disease’s impact on vision and hearing can also slow the rate at which other skills, such as the ability to speak, are mastered.
	www.fairviewbmt.org /Diseases_and_Conditions/c_098315.asp (688 words)

	2005 Pediatric Pathology Specialty Conference Handout - Case 1
		The natural history of malignant osteopetrosis is progressive bone marrow failure, recurrent infections, and death, usually by two years of age.
		Mutations in the A3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.
		Malignant osteopetrosis is associated with a wide variety of recessive mutations in the ATP6i gene.
	www.uscap.org /site~/94th/specpedih1.htm (3574 words)

	Increased Induction of Osteopetrosis, but Unaltered Lymphomagenicity, by Murine Leukemia Virus SL3-3 after Mutation of ...
		SL3-3 induced osteopetrosis in 11% of the mice (2 of 19), and
		In NMRI mice, RFB MLV induced osteopetrosis in 60%,
		1/2) induced osteopetrosis in 6 of 16 mice (38%).
	jvi.asm.org /cgi/content/full/73/12/10406 (6608 words)

	Tell me about osteopetrosis
		This is a condition that you have been born with and is not to be confused with osteoporosis, which is acquired gradually with advancing age.
		Osteopetrosis is also known as Albers-Schonberg disease, and some people refer to it as marble bones.
		Osteopetrosis is rare, and a condition that I have never encountered.
	www.netdoctor.co.uk /ate/musclesjoints/203018.html (513 words)

	Esophagectomy and splenectomy in a patient with osteopetrosis -- Hendren et al. 129 (6): 1457 -- The Journal of ...
		Esophagectomy and splenectomy in a patient with osteopetrosis -- Hendren et al.
		Esophagectomy and splenectomy in a patient with osteopetrosis
		Osteopetrosis is a rare genetic disorder characterized by a
	jtcs.ctsnetjournals.org /cgi/content/full/129/6/1457 (756 words)

	A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal ...
		A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis -- Borthwick et al.
		Typical features of osteopetrosis are the "bone in bone" appearance seen in the left humerus and iliac crests (A, arrows), and the severely sclerotic appearance of the skull base relative to the calvarium (B).
		Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
	jmg.bmjjournals.com /cgi/content/full/40/2/115 (3545 words)

	Osteopetrosis - Patient UK
		Osteopetrosis - Patient UK PatientPlus articles are written for doctors and so the language can be technical.
		Usually, the underlying defect is an inability of osteoclasts to resorb mineralised bone.
		Severe osteopetrosis Infant is short with a large head and frontal bossing, knock knees.
	www.patient.co.uk /showdoc/40001122 (341 words)

	Medical Dictionary: Osteopetrosis - WrongDiagnosis.com
		Osteopetrosis: an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
		Osteopetrosis is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Osteopetrosis, or a subtype of Osteopetrosis, affects less than 200,000 people in the US population.
	www.wrongdiagnosis.com /medical/osteopetrosis.htm (225 words)

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