Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia

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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Bibliographic Details
Main Authors: Ong, Shin Yeu, Li, Shao-Tzu, Wong, Gee Chuan, Ho, Aloysius Yew Leng, Nagarajan, Chandramouli, Ngeow, Joanne
Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
Format: Article
Language:English
Published: 2018
Subjects:
Shwachman Diamond Syndrome
Inherited Bone Marrow Failure Syndrome
Online Access:https://hdl.handle.net/10356/85574
http://hdl.handle.net/10220/45198
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Institution: Nanyang Technological University
Language: English
Description
Summary: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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