Shwachman-Diamond Syndrome presenting in a premature infant as pancytopenia

被引：4

作者：

Black, L. Vandy ^{[1
]}

Soltau, Thomas ^{[2
]}

Kelly, David R. ^{[3
]}

Berkow, Roger L. ^{[1
]}

机构：

[1] Univ Alabama Birmingham, Dept Pediat, Div Pediat Hematol Oncol, Birmingham, AL USA

[2] Univ Alabama Birmingham, Dept Pediat, Div Neonatol, Birmingham, AL USA

[3] Univ Alabama Birmingham, Dept Pathol, Birmingham, AL 35294 USA

来源：

PEDIATRIC BLOOD & CANCER | 2008年 / 51卷 / 01期

关键词：

bone marrow failure syndromes; congenital neutropenia; premature infants; Shwachman-Diamond;

D O I：

10.1002/pbc.21550

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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).

引用

页码：123 / 124

页数：2

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