Black L Vandy, Soltau Thomas, Kelly David R, Berkow Roger L
Department of Pediatrics, Division of Pediatric Hematology-Oncology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Pediatr Blood Cancer. 2008 Jul;51(1):123-4. doi: 10.1002/pbc.21550.
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).
施瓦赫曼-戴蒙德综合征是一种罕见的常染色体隐性疾病，其特征为骨髓功能障碍、外分泌胰腺功能不全、生长发育迟缓及骨骼异常。该病最常在血液学异常出现后于幼儿期被诊断出来。我们报告了一名孕33周出生的早产儿，其出生时小于孕周，且持续存在血细胞减少症，需要输血治疗。基因检测确诊为施瓦赫曼-戴蒙德综合征（SDS）。
