Figure 1
From: Structural variation and missense mutation in SBDSassociated with Shwachman-Diamond syndrome
Clinical features of SDS proband. a. Transverse abdominal ultrasound image obtained at 5 years 11 months of age revealing normal size, contour, and echogenicity of the pancreas, indicated by arrow. b. Axial conventional spin echo T1-weighted MR image obtained at 5 years 11 months of age showing normal signal intensity of the pancreatic parenchyma with no evidence of atrophy or fatty infiltration of the pancreas, indicated by arrow. c. Axial contrast-enhanced CT image obtained at 6 years 5 months of age demonstrating normal attenuation of the pancreatic parenchyma with no evidence of atrophy or fatty infiltration of the pancreas, indicated by arrow. d. The proband’s growth curve showing markedly short stature. The bottom-most curve normal curve represents the 5th percentile for girls.