Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia
Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS). Accurate diagnosis affects choice of chemotherapy, donor selection, and transplant conditioning. We report a case of delayed diagno...
| Main Authors: | , , , , , |
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| Other Authors: | |
| Format: | Journal Article |
| Language: | English |
| Published: |
2018
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| Online Access: | https://hdl.handle.net/10356/85574 http://hdl.handle.net/10220/45198 |
| _version_ | 1826129091887104000 |
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| author | Ong, Shin Yeu Li, Shao-Tzu Wong, Gee Chuan Ho, Aloysius Yew Leng Nagarajan, Chandramouli Ngeow, Joanne |
| author2 | Lee Kong Chian School of Medicine (LKCMedicine) |
| author_facet | Lee Kong Chian School of Medicine (LKCMedicine) Ong, Shin Yeu Li, Shao-Tzu Wong, Gee Chuan Ho, Aloysius Yew Leng Nagarajan, Chandramouli Ngeow, Joanne |
| author_sort | Ong, Shin Yeu |
| collection | NTU |
| description | Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS). Accurate diagnosis affects choice of chemotherapy, donor selection, and transplant conditioning. We report a case of delayed diagnosis of SDS in a family with another child with aplastic anemia, and review reported cases of SDS in Asia. This highlights the gap in identifying inherited bone marrow failure syndromes in adults with hematologic malignancies. |
| first_indexed | 2024-10-01T07:35:24Z |
| format | Journal Article |
| id | ntu-10356/85574 |
| institution | Nanyang Technological University |
| language | English |
| last_indexed | 2024-10-01T07:35:24Z |
| publishDate | 2018 |
| record_format | dspace |
| spelling | ntu-10356/855742020-11-01T05:28:28Z Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia Ong, Shin Yeu Li, Shao-Tzu Wong, Gee Chuan Ho, Aloysius Yew Leng Nagarajan, Chandramouli Ngeow, Joanne Lee Kong Chian School of Medicine (LKCMedicine) Shwachman Diamond Syndrome Inherited Bone Marrow Failure Syndrome Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS). Accurate diagnosis affects choice of chemotherapy, donor selection, and transplant conditioning. We report a case of delayed diagnosis of SDS in a family with another child with aplastic anemia, and review reported cases of SDS in Asia. This highlights the gap in identifying inherited bone marrow failure syndromes in adults with hematologic malignancies. Published version 2018-07-23T09:07:05Z 2019-12-06T16:06:20Z 2018-07-23T09:07:05Z 2019-12-06T16:06:20Z 2018 Journal Article Ong, S. Y., Li, S.-T., Wong, G. C., Ho, A. Y. L., Nagarajan, C., & Ngeow, J. (2018). Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia. Leukemia Research Reports, 9, 54-57. 2213-0489 https://hdl.handle.net/10356/85574 http://hdl.handle.net/10220/45198 10.1016/j.lrr.2018.04.002 en Leukemia Research Reports © 2018 Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/BY-NC-ND/4.0/). 4 p. application/pdf |
| spellingShingle | Shwachman Diamond Syndrome Inherited Bone Marrow Failure Syndrome Ong, Shin Yeu Li, Shao-Tzu Wong, Gee Chuan Ho, Aloysius Yew Leng Nagarajan, Chandramouli Ngeow, Joanne Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia |
| title | Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia |
| title_full | Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia |
| title_fullStr | Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia |
| title_full_unstemmed | Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia |
| title_short | Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia |
| title_sort | delayed diagnosis of shwachman diamond syndrome with short telomeres and a review of cases in asia |
| topic | Shwachman Diamond Syndrome Inherited Bone Marrow Failure Syndrome |
| url | https://hdl.handle.net/10356/85574 http://hdl.handle.net/10220/45198 |
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