Shwachman-diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (jeune syndrome) BMC Pediatrics, 05/10/2012

Keogh SJ et al. – This report highlights the potential for diagnostic confusion between asphyxiating thoracic dystrophy (ATD) and Shwachman–Diamond Syndrome (SDS). It is important to include SDS in the differential diagnosis of newborns with thoracic dystrophy and to seek expert clinical and radiological assessment of such children.

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