Abstract:
:Pseudoachondroplasia is a rare rhizomelic short-limbed skeletal dysplasia. Its inheritance is varied; autosomal dominant pattern and germline or somatic mutations can occur. Children at 2-3 years of age present with short height, gait disturbances, or limb deformities. Characteristic skeletal changes include shortening of long bones, predominantly of femur and humerus with irregular, flared metaphysis and fragmented epiphysis. Platyspondyly is also present, but the interpedicular distance is normal. The diagnosis is essentially based on imaging, and thus, it is important to be aware of the radiological features. Here, we report a case of two brothers where the elder sibling had classical radiological features of pseudoachondroplasia, whereas the younger one had early changes of this disorder.
journal_name
Indian J Orthopjournal_title
Indian journal of orthopaedicsauthors
Tandon A,Bhargava SK,Goel S,Bhatt Sdoi
10.4103/0019-5413.43400subject
Has Abstractpub_date
2008-10-01 00:00:00pages
477-9issue
4eissn
0019-5413issn
1998-3727journal_volume
42pub_type
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journal_title:Indian journal of orthopaedics
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doi:10.4103/ortho.IJOrtho_486_17
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.33678
更新日期:2007-07-01 00:00:00
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pub_type: 杂志文章
doi:10.4103/0019-5413.132525
更新日期:2014-05-01 00:00:00
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pub_type: 杂志文章
doi:10.4103/0019-5413.80049
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pub_type: 杂志文章
doi:10.4103/0019-5413.201709
更新日期:2017-03-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.125524
更新日期:2014-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:2007-01-01 00:00:00
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pub_type: 已发布勘误
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更新日期:2016-05-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
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更新日期:2009-10-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:
更新日期:2011-11-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.106935
更新日期:2013-01-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.96369
更新日期:2012-05-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.104240
更新日期:2012-11-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.1007/s43465-019-00030-4
更新日期:2020-01-31 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.152480
更新日期:2015-03-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章,评审
doi:10.1007/s43465-020-00164-w
更新日期:2020-06-10 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.69320
更新日期:2010-10-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.49388
更新日期:2009-07-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/ortho.IJOrtho_25_17
更新日期:2019-01-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.106918
更新日期:2013-01-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.156228
更新日期:2015-05-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/ortho.IJOrtho_148_19
更新日期:2019-11-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/ortho.IJOrtho_423_17
更新日期:2018-05-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/ortho.IJOrtho_590_17
更新日期:2019-03-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/ortho.IJOrtho_451_18
更新日期:2019-09-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.143916
更新日期:2015-01-01 00:00:00
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journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.189609
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:Achondroplasia (ACH) is the most frequent form of short-limbed dwarfism, caused by mutations in the FGFR3 gene. It follows an autosomal dominant inheritance, though most cases are sporadic. The molecular techniques are the only available methods to confirm the diagnosis of a skeletal dysplasia. Clinical and ...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.50856
更新日期:2009-04-01 00:00:00