osteopetrosis

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osteopetrosis

 [os″te-o-pĕ-tro´sis]
a rare hereditary, congenital condition in which there are bandlike areas of condensed bone at the epiphyseal lines of long bones and condensation of the edges of smaller bones. Fractures occur frequently and deformities of the head, chest, or spine develop. There is no treatment and the prognosis is unfavorable. There may be obliteration of the marrow spaces, causing anemia. Called also Albers-Schönberg disease and marble bones.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

os·te·o·pe·tro·sis

(os'tē-ō-pe-trō'sis), [MIM*166600]
Excessive formation of dense trabecular bone and calcified cartilage, especially in long bones, leading to obliteration of marrow spaces and to anemia with myeloid metaplasia and hepatosplenomegaly beginning in infancy, to bone fragility, and to progressive deafness and blindness; autosomal dominant inheritance. There are also autosomal recessive forms, which may be mild [MIM*259710], severe [MIM*259700], or lethal [MIM*259720], and sometimes involve a renal tubular defect [MIM*259730]. A milder, autosomal dominant form has onset in childhood and no neurologic sequelae.
[osteo- + G. petra, stone, + -osis, condition]
Farlex Partner Medical Dictionary © Farlex 2012

osteopetrosis

Albers-Schoenberg disease, marble bone disease Pediatric endocrinology A heterogeneous group of rare AD and cortical and trabecular osteosclerotic disorders, characterized by ↓ osteoclastic activity and ↓ bone resorption, with accumulation of sclerotic bone, compromising marrow space Management IFN-gamma-1b, BMT, high-dose calcitriol
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

os·te·o·pe·tro·sis

(os'tē-ō-pĕ-trō'sis)
Excessive formation of dense trabecular bone and calcified cartilage, especially in long bones, leading to obliteration of marrow spaces and to anemia, with myeloid metaplasia and hepatosplenomegaly, beginning in infancy and with progressive deafness and blindness.
Synonym(s): Albers-Schönberg disease.
[osteo- + G. petra, stone, + -osis, condition]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

osteopetrosis

A group of hereditary bone disorders featuring increased density (‘marble bones’) but increased fragility (‘osteosclerosis fragilis’). In some cases excessive bone growth can cause pressure effects on nerves passing through bony canals. The condition is due to a defect of bone resorption by OSTEOCLASTS so that osteoblastic bone synthesis proceeds unchecked. It can sometimes be treated by bone marrow transfusion to provide normal osteoclasts. Also known as Albers-Schonberg disease after Heinrich Ernst Albers Schönberg (1865–1921) who was professor of radiology at Hamburg.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

Albers-Schönberg,

Heinrich Ernst, German radiologist, 1865-1921.
Albers-Schönberg disease - excessive formation of dense trabecular bone and calcified cartilage. Synonym(s): osteopetrosis
Medical Eponyms © Farlex 2012

os·te·o·pe·tro·sis

(os'tē-ō-pĕ-trō'sis) [MIM*166600]
Excessive formation of dense trabecular bone and calcified cartilage, especially in long bones, leading to obliteration of marrow spaces and to anemia with myeloid metaplasia and hepatosplenomegaly beginning in infancy.
[osteo- + G. petra, stone, + -osis, condition]
Medical Dictionary for the Dental Professions © Farlex 2012