Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

• Main Authors: Keogh Steven J (Author), McKee Shane (Author), Smithson Sarah F (Author), Grier David (Author), Steward Colin G (Author)
• Format: Book
• Published: BMC, 2012-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p><b>Background</b></p> <p>The differential diagnosis of a neonate or fetus presenting with a bell-shaped or long narrow thorax includes a wide range of bony dysplasia syndromes. Where this is accompanied by respiratory distress, asphyxiatin...