Shwachman-Diamond syndrome

Case contributed by Luke Danaher
Diagnosis probable

Presentation

Respiratory distress

Patient Data

Age: 6 months
Gender: Male

CXR (ICU mobile)

x-ray

Rib shortening and "cupping".

AXR

x-ray
  • osteopaenia
  • modelling deformity of the pelvis and proximal femora
  • shortening and "cupping of the ribs"
  • gasless abdomen

US abdomen

ultrasound

Echogenic pancreas.

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