For all other comments, please send your remarks via contact us. Links to pubmed are also available for selected references. Osteopetrosis is a rare hereditary disease which is characterized by increased bone density. On the basis of radiological and clinical differences, two subtypes have been recognized andersen and bollerslev 1987. Marble bone disease, albersschonberg disease, osteosclerosis fragilis, albersschonberg osteopetrosis, albersschoenberg disease, osteopetrosis and related disorders back to top.
Get a printable copy pdf file of the complete article 1. Osteopetrosis, calcificacion mas alla del sistema oseo. Albersschonberg disease synonyms, albersschonberg disease pronunciation, albersschonberg disease translation, english dictionary definition of. Albersschonberg described the radiographic findings in a patient with increased bone density. Albersschonberg disease animal disease anthrax autoimmune disease autoimmune disorder autosomal dominant disease autosomal dominant disorder autosomal recessive defect autosomal recessive disease bantis disease blight brain disease brain disorder branched chain ketoaciduria cardiopathy chondrodystrophy. Osteopetrosis genetic and rare diseases information. This page was last edited on 7 september 2019, at 00. Albersschonberg disease definition of albersschonberg. Operative fracture treatment in patients with osteopetrosis is difficult, and our. Heinrich ernst albersschonberg 21 january 1865 4 june 1921 was a german gynecologist and radiologist. Half of the patients are asymptomatic and diagnosed incidentally or based on the presence of fracture. Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton.
The patient had normal biochemical findings and acidbase balance, except for. A 16yearold male patient with type ii autosomal dominant benign osteopetrosis ado was genotyped and found to harbor a novel mutation in exon 25 of the gene encoding for the osteoclastspecific chloride channel, clcn7, inherited from the father, who was asymptomatic. Albersschonberg disease animal disease anthrax autoimmune disease autoimmune disorder autosomal dominant disease autosomal dominant disorder autosomal recessive defect autosomal recessive disease bantis disease blight brain disease brain disorder branched feede. Adult onset osteopetrosis usually presents with hip and proximal femoral fractures. All structured data from the file and property namespaces is available under the creative commons cc0 license. Avermectins administered to cattle for control of parasitic infections by injection or slowrelease bolus are excreted in the faeces and have a variety of harmful effects upon diptera and coleoptera that develop in cowpats. Osteopetrosis is a hereditary disease with an autosomal recessive or autosomal dominant type of inheritance, caused by a disruption in the functional activity of osteoclasts due to gene mutation. Autosomal recessive osteopetrosis infantile autosomal recessive osteopetrosis is the more severe form that tends to present earlier. Osteopetrosis marble bone disease is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. An autosomal recessive form mim259700 of early onset osteopetrosis with failure to thrive, bone fragility, multiple fractures, osteomyelitis and other infections, proptosis, blindness, deafness and hydrocephalus due to bony overgrowth of cranial foramina.
We describe a patient with autosomaldominant osteopetrosis, a subtrochanteric fracture, and an ipsilateral femoral neck fracture treated with a hip spica cast although the fracture united with coxa vara and external rotation deformities, the patient successfully returned to his normal activities of daily living. There is no treatment and the prognosis is unfavorable. Depending on severity and age of onset, features may include fractures. It is a group of genetically and clinically heterogeneous disorders characterized by increased skeletal density. Full text full text is available as a scanned copy of the original print version.
Osteopetrosis op variably referred to as marble bone disease or albers schonberg disease was first described by a german radiologist in 1904. Lee, md this case study describes the fairly rare entity of osteopetrosis and points out how a seemingly insigni. If you have problems viewing pdf files, download the latest version of adobe reader. A condition or tendency, as of society, regarded as abnormal and harmful. Files are available under licenses specified on their description page.
Signal loss osteopetrosis of the subchondral vertebral bodies, the arches, the articular, uncinate and spinous processes of the cervical spine with moderate spondylosis. Albers schonberg disease synonyms, albers schonberg disease pronunciation, albers schonberg disease translation, english dictionary definition of albers schonberg disease. An autosomal recessive form of osteopetrosis opta4. Albersschonberg disease autosomal dominant osteopetrosis. Albersschonberg disease, or autosomal dominant osteopetrosis, type ii ado ii, is the most common form of osteopetrosis, a group of conditions characterized by an increased skeletal mass due to impaired bone and cartilage resorption. Hence, it is referred to as infantile and malignant, compared to the autosomal dominant osteopetrosis. Systemic disease sickle cell disease creutzfeldtjakob disease and eye surgerynew disease, old disease cardiovascular nondisease and disease in pregnancy. Albersschonberg disease, autosomal recessive os teopetrosis, autosomal dominant osteopetrosis. T2 signal loss osteopetrosis of the subchondral vertebral bodies, the arches, the articular, uncinate and spinous processes of the cervical spine with moderate spondylosis. The autosomal dominant form generally presents with a milder phenotype and is therefore also known as the benign type.
Autosomal dominant osteopetrosis ado type ii mim 166600 was the first type of osteopetrosis recognized, as described. Osteopetrosis orphanet journal of rare diseases full text. Natural products in drug discovery organizing for success. Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. It is caused by functionally defective osteoclasts which fail to resorb bone. Fractures occur frequently and deformities of the head, chest, or spine develop. He was a native of hamburg he studied medicine at the universities of tubingen and leipzig, where in 1891 he earned his medical doctorate under the guidance of heinrich curschmann 18461910.