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...

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Autores principales: Ong, Shin Yeu, Li, Shao-Tzu, Wong, Gee Chuan, Ho, Aloysius Yew Leng, Nagarajan, Chandramouli, Ngeow, Joanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993352/
https://www.ncbi.nlm.nih.gov/pubmed/29892551
http://dx.doi.org/10.1016/j.lrr.2018.04.002
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author Ong, Shin Yeu
Li, Shao-Tzu
Wong, Gee Chuan
Ho, Aloysius Yew Leng
Nagarajan, Chandramouli
Ngeow, Joanne
author_facet Ong, Shin Yeu
Li, Shao-Tzu
Wong, Gee Chuan
Ho, Aloysius Yew Leng
Nagarajan, Chandramouli
Ngeow, Joanne
author_sort Ong, Shin Yeu
collection PubMed
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.
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spelling pubmed-59933522018-06-11 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 Leuk Res Rep Article 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. Elsevier 2018-04-09 /pmc/articles/PMC5993352/ /pubmed/29892551 http://dx.doi.org/10.1016/j.lrr.2018.04.002 Text en © 2018 Published by Elsevier Ltd. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
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 Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993352/
https://www.ncbi.nlm.nih.gov/pubmed/29892551
http://dx.doi.org/10.1016/j.lrr.2018.04.002
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