PMC4678473_01
Clinical features of our patient diagnosed with trichorhinophalangeal syndrome type II: a, long and clubbed-fingers. a, b Nails of fingers and toes are typically thin and dystrophic
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Fig1
Her finger and toe nails were typically thin and dystrophic (Fig. 1).
Imaging examinations of the patient. a Brain MRI showed encephalatrophy-like changes. b, c X-ray examination showed short metacarpals of the fifth finger, cone-shaped epiphyses of the proximal inter-phalangeal joint of middle phalanx of the fingers (white arrow), multiple exostoses (white arrow head) and malaligned crowded teeth. d Upper GI series showed insufficient distention at the pylorus and duodenum (black arrow) indicating encircled pancreatic tissue. e Axial CT image clearly showed annular pancreatic tissue encircling the second portion of the duodenum (white circle). f CT volume rendering revealed exostoses (white arrow head) and fusion malformation of the second and third ribs on the right side (white circle)
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Fig2
Brain MRI showed encephalatrophy-like changes (Fig. 2, a). X-ray examination showed short metacarpals of the fifth finger, cone-shaped epiphyses of the proximal inter-phalangeal joint of middle phalanx of the fingers and malaligned crowded teeth (Fig. 2, b and c). CT image clearly showed annular pancreatic tissue encircling the second portion of the duodenum (Fig. 2, d and e). CT volume revealed exostoses of the scapulae and fusion malformation of the second and third ribs on the right side (Fig. 2, f).