Aase-Smith syndrome: report of a new case with unusual features
A new case of Aase-Smith syndrome has been reported with additional findings, including microcephaly, axial rotation of the kidneys, preaxial polydactyly and leukopenia. The patient had almost complete clinical remission with corticosteroid treatment. The findings in this case suggest that it...
| Published in: | The Turkish Journal of Pediatrics |
|---|---|
| Main Authors: | , , , , |
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
1994-07-01
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| Online Access: | https://turkjpediatr.org/article/view/3632 |
| _version_ | 1849881599242403840 |
|---|---|
| author | S Yetgin S Balci G Irken T Coşkun B Say |
| author_facet | S Yetgin S Balci G Irken T Coşkun B Say |
| author_sort | S Yetgin |
| collection | DOAJ |
| container_title | The Turkish Journal of Pediatrics |
| description |
A new case of Aase-Smith syndrome has been reported with additional findings, including microcephaly, axial rotation of the kidneys, preaxial polydactyly and leukopenia. The patient had almost complete clinical remission with corticosteroid treatment. The findings in this case suggest that it is very difficult to differentiate Aase-Smith syndrome from Blackfan-Diamond and Fanconi's anemias as well as from those cases reported by Murphy and Lubin, and Jones and Thompson.
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| format | Article |
| id | doaj-art-e04d8d7ca7ce43c2abf96230896241b4 |
| institution | Directory of Open Access Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 1994-07-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| spelling | doaj-art-e04d8d7ca7ce43c2abf96230896241b42025-08-20T01:08:58ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64211994-07-01363Aase-Smith syndrome: report of a new case with unusual featuresS Yetgin0S BalciG IrkenT CoşkunB SayDepartment of Pediatrics, Hacettepe University Faculty of Medicine, Ankara. A new case of Aase-Smith syndrome has been reported with additional findings, including microcephaly, axial rotation of the kidneys, preaxial polydactyly and leukopenia. The patient had almost complete clinical remission with corticosteroid treatment. The findings in this case suggest that it is very difficult to differentiate Aase-Smith syndrome from Blackfan-Diamond and Fanconi's anemias as well as from those cases reported by Murphy and Lubin, and Jones and Thompson. https://turkjpediatr.org/article/view/3632 |
| spellingShingle | S Yetgin S Balci G Irken T Coşkun B Say Aase-Smith syndrome: report of a new case with unusual features |
| title | Aase-Smith syndrome: report of a new case with unusual features |
| title_full | Aase-Smith syndrome: report of a new case with unusual features |
| title_fullStr | Aase-Smith syndrome: report of a new case with unusual features |
| title_full_unstemmed | Aase-Smith syndrome: report of a new case with unusual features |
| title_short | Aase-Smith syndrome: report of a new case with unusual features |
| title_sort | aase smith syndrome report of a new case with unusual features |
| url | https://turkjpediatr.org/article/view/3632 |
| work_keys_str_mv | AT syetgin aasesmithsyndromereportofanewcasewithunusualfeatures AT sbalci aasesmithsyndromereportofanewcasewithunusualfeatures AT girken aasesmithsyndromereportofanewcasewithunusualfeatures AT tcoskun aasesmithsyndromereportofanewcasewithunusualfeatures AT bsay aasesmithsyndromereportofanewcasewithunusualfeatures |