Berrocal T, Simón M J, al-Assir I, Prieto C, Pastor I, de Pablo L, Lama R
Servicio de Radiología Pediatrica, Hospital Infantil La Paz, Madrid, Spain.
Pediatr Radiol. 1995;25(5):356-9. doi: 10.1007/BF02021702.
Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, "cup" deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normalized pancreas. We discuss the differential diagnosis and review the literature.
自1986年以来，我院已诊断并治疗了6例施瓦赫曼-戴蒙德综合征患儿。我们描述了这种罕见疾病的放射学和超声检查结果，其特征为干骺端软骨发育不良、中性粒细胞减少和外分泌性胰腺功能不全。该病表现为不同程度的肢体缩短、肋骨“杯状”变形、干骺端增宽和髂骨发育不全，以及正常胰腺回声增强。我们讨论了鉴别诊断并回顾了相关文献。
