PMC3515937_01
Right-hand shows flexion contractures of the fingers (arrow) and dysmorphic nail (arrowhead).
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F1
General examination revealed her height after the age of 12 years had been consistently below the 5th percentile level, a family history of short stature, flexion contractures of the fingers [Figure 1], and no sensory abnormalities.
Intra-oral view of the mucosa shows scrappable curdy white patches (arrow). positive for fungal hyphae and angular cheilitis (arrowhead).
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F2
Scrappable curdy white patches positive for fungal hyphae were present in multiple sites of the oral mucosa and angular cheilitis was evident [Figure 2].
Orthopantomograph shows multiple impacted permanent teeth (arrow head) with delayed eruption and incomplete root formation (arrow).
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F3
Orthopantomograph [Figure 3] revealed multiple impacted permanent teeth with delayed eruption and incomplete root formation.
Axial CT of brain shows diffuse, symmetric parenchymal calcifications in the cerebellar region (arrow).
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F4
Computed tomography (CT) brain [Figures 4, 5] revealed extensive symmetric parenchymal calcifications involving the basal ganglia, cerebellar, and subcorticol regions.
Axial CT of brain shows extensive symmetric calcifications in the frontal lobe (black straight arrow), periventricular region (black curved arrow), basal ganglia (red straight arrow), and parietal lobe (red curved arrow).
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F5
Computed tomography (CT) brain [Figures 4, 5] revealed extensive symmetric parenchymal calcifications involving the basal ganglia, cerebellar, and subcorticol regions.