[HTML][HTML] Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia
SY Ong, ST Li, GC Wong, AYL Ho, C Nagarajan… - Leukemia research …, 2018 - Elsevier
SY Ong, ST Li, GC Wong, AYL Ho, C Nagarajan, J Ngeow
Leukemia research reports, 2018•ElsevierInherited 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 …
(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 …
Abstract
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
