Pseudoachondroplasia: Report on a South African family
Pseudoachondroplasia is an autosomal dominant skeletal dysplasia that results in disproportionately short stature, severe brachydactyly with strikingly lax small joints, malalignments of the lower limbs, and characteristic radiological features. Although named ‘false achondroplasia’, the entity is a...
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| Format: | Article |
| Language: | English |
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AOSIS
2013-06-01
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| Series: | South African Journal of Radiology |
| Subjects: | |
| Online Access: | https://sajr.org.za/index.php/sajr/article/view/247 |
| _version_ | 1818365349339332608 |
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| author | Shahida Moosa Gen Nishimura |
| author_facet | Shahida Moosa Gen Nishimura |
| author_sort | Shahida Moosa |
| collection | DOAJ |
| description | Pseudoachondroplasia is an autosomal dominant skeletal dysplasia that results in disproportionately short stature, severe brachydactyly with strikingly lax small joints, malalignments of the lower limbs, and characteristic radiological features. Although named ‘false achondroplasia’, the entity is a distinct condition, in which affected individuals are born with normal length and have a normal facies, but is often only recognised after the age of 2 years, when the disproportion and waddling gait become evident. We report on an affected South African father and daughter, and highlight their clinical and radiographic features. |
| first_indexed | 2024-12-13T22:18:51Z |
| format | Article |
| id | doaj.art-059ef98f95164cf8b781b732ea32ef5a |
| institution | Directory Open Access Journal |
| issn | 1027-202X 2078-6778 |
| language | English |
| last_indexed | 2024-12-13T22:18:51Z |
| publishDate | 2013-06-01 |
| publisher | AOSIS |
| record_format | Article |
| series | South African Journal of Radiology |
| spelling | doaj.art-059ef98f95164cf8b781b732ea32ef5a2022-12-21T23:29:26ZengAOSISSouth African Journal of Radiology1027-202X2078-67782013-06-01172656710.4102/sajr.v17i2.247247Pseudoachondroplasia: Report on a South African familyShahida Moosa0Gen Nishimura1Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, JohannesburgDepartment of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, TokyoPseudoachondroplasia is an autosomal dominant skeletal dysplasia that results in disproportionately short stature, severe brachydactyly with strikingly lax small joints, malalignments of the lower limbs, and characteristic radiological features. Although named ‘false achondroplasia’, the entity is a distinct condition, in which affected individuals are born with normal length and have a normal facies, but is often only recognised after the age of 2 years, when the disproportion and waddling gait become evident. We report on an affected South African father and daughter, and highlight their clinical and radiographic features.https://sajr.org.za/index.php/sajr/article/view/247Pseudoachondroplasiaskeletal dysplasia |
| spellingShingle | Shahida Moosa Gen Nishimura Pseudoachondroplasia: Report on a South African family South African Journal of Radiology Pseudoachondroplasia skeletal dysplasia |
| title | Pseudoachondroplasia: Report on a South African family |
| title_full | Pseudoachondroplasia: Report on a South African family |
| title_fullStr | Pseudoachondroplasia: Report on a South African family |
| title_full_unstemmed | Pseudoachondroplasia: Report on a South African family |
| title_short | Pseudoachondroplasia: Report on a South African family |
| title_sort | pseudoachondroplasia report on a south african family |
| topic | Pseudoachondroplasia skeletal dysplasia |
| url | https://sajr.org.za/index.php/sajr/article/view/247 |
| work_keys_str_mv | AT shahidamoosa pseudoachondroplasiareportonasouthafricanfamily AT gennishimura pseudoachondroplasiareportonasouthafricanfamily |