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

BACKGROUND: 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, asphyxiating thoracic dystrophy (ATD, Jeune syndrome) is an important potential diagn...

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Detalles Bibliográficos
Autores principales: Keogh, Steven J, McKee, Shane, Smithson, Sarah F, Grier, David, Steward, Colin G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3457858/
https://www.ncbi.nlm.nih.gov/pubmed/22554078
http://dx.doi.org/10.1186/1471-2431-12-48

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3457858/
https://www.ncbi.nlm.nih.gov/pubmed/22554078
http://dx.doi.org/10.1186/1471-2431-12-48

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