期刊
PEDIATRIC BLOOD & CANCER
卷 51, 期 1, 页码 123-124出版社
WILEY
DOI: 10.1002/pbc.21550
关键词
bone marrow failure syndromes; congenital neutropenia; premature infants; Shwachman-Diamond
Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We report a premature infant born at 33 weeks gestation who was small for gestational age and displayed persistent cytopenias requiring transfusion. Genetic testing confirmed a diagnosis of Shwachman-Diamond syndrome (SDS).
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