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

• Egile Nagusiak: Keogh Steven J (Egilea), McKee Shane (Egilea), Smithson Sarah F (Egilea), Grier David (Egilea), Steward Colin G (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2012-05-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...