Abstract:
:Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder characterized by the reduced or absent activity of glucocerebrosidase. The disease is split into three types. Type 3, or chronic neuronopathic GD, manifests with heterogeneous clinical presentations. Skeletal manifestations of GD can include abnormal bone remodeling resulting in the characteristic Erlenmeyer flask deformities, painful bone crises, osteopenia, and an increased frequency of fractures. Osteolytic lesions can also occur but are rare and tend to be large, expanding intramedullary lesions with cortical thinning. We present two adolescent patients with type 3 GD who developed bilateral symmetrical cortical osteolytic lesions. The lesions in both cases demonstrate predominant cortical scalloping with fairly indolent growth. Neither patient manifests some of the more common bony manifestations of GD--bone crises or osteonecrosis. These atypical and unique skeletal findings in two unrelated probands with type 3 GD further expand the extent of phenotypic variation encountered in this single gene disorder.
journal_name
Skeletal Radioljournal_title
Skeletal radiologyauthors
Oppenheim IM,Canon AM,Barcenas W,Groden C,Goker-Alpan O,Resnik CS,Sidransky Edoi
10.1007/s00256-011-1260-xsubject
Has Abstractpub_date
2011-12-01 00:00:00pages
1611-5issue
12eissn
0364-2348issn
1432-2161journal_volume
40pub_type
杂志文章abstract:OBJECTIVE:To demonstrate and determine the frequency and location of calcification within cadaveric knees with or without calcification typical of calcium pyrophosphate dihydrate (CPPD), utilizing histologic, radiographic and MR imaging techniques. DESIGN AND PATIENTS:Ten cadaveric knees of elderly individuals that de...
journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/s00256-004-0767-9
更新日期:2004-07-01 00:00:00
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journal_title:Skeletal radiology
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doi:10.1007/s002560050278
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journal_title:Skeletal radiology
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更新日期:1997-06-01 00:00:00
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doi:10.1007/s00256-004-0788-4
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journal_title:Skeletal radiology
pub_type: 杂志文章,评审
doi:10.1007/s00256-014-1840-7
更新日期:2014-06-01 00:00:00
abstract::In a collection of 101 anatomical preparations of the human pelvis, ossification of the sacrotuberous ligament was found in 8 cases. In 7 of these, the ossification showed a characteristic intraligamentous morphology, with a broad-based origin at the ischial tuberosity and tapering off craniomedially. The length varie...
journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/BF00197139
更新日期:1993-11-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/s00256-013-1673-9
更新日期:2013-10-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/s00256-014-1817-6
更新日期:2014-05-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/s00256-020-03426-8
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journal_title:Skeletal radiology
pub_type: 杂志文章
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更新日期:2011-08-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/BF00241664
更新日期:1991-01-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/s00256-003-0628-y
更新日期:2003-05-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/BF00198077
更新日期:1995-02-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/s00256-009-0770-2
更新日期:2009-12-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/s00256-013-1672-x
更新日期:2013-12-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/s00256-010-1037-7
更新日期:2011-05-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章,评审
doi:10.1007/s002560050435
更新日期:1998-10-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/BF00193819
更新日期:1991-01-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/s00256-008-0611-8
更新日期:2009-03-01 00:00:00
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doi:10.1007/s00256-013-1650-3
更新日期:2013-10-01 00:00:00
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更新日期:2017-09-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/BF00361052
更新日期:1986-01-01 00:00:00
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journal_title:Skeletal radiology
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doi:10.1007/BF00367763
更新日期:1987-01-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
doi:10.1007/s00256-005-0943-6
更新日期:2006-10-01 00:00:00
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doi:10.1007/s00256-006-0213-2
更新日期:2007-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1007/s00256-005-0070-4
更新日期:2006-05-01 00:00:00
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journal_title:Skeletal radiology
pub_type: 杂志文章
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更新日期:2020-07-01 00:00:00
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更新日期:2002-03-01 00:00:00
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pub_type: 杂志文章
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