PMC3671267_01
The presence of arachnodactyly.
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fig1
In his physical examination, he had a dysmorphic face (wide forehead, hypertelorism), low-set and cup-shaped ears, arachnodactyly, and mild mental retardation (Figures 1, 2, and 3).
The presence of low-set and cup shaped ears.
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fig2
In his physical examination, he had a dysmorphic face (wide forehead, hypertelorism), low-set and cup-shaped ears, arachnodactyly, and mild mental retardation (Figures 1, 2, and 3).
Dysmorphic facial appearance of the patient.
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fig3
In his physical examination, he had a dysmorphic face (wide forehead, hypertelorism), low-set and cup-shaped ears, arachnodactyly, and mild mental retardation (Figures 1, 2, and 3).
The presence of mega cisterna magna in the retrocerebellar region.
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fig4
Cranial MRI revealed 1.5 cm diametered mega cisterna magna in the retrocerebellar region (Figure 4).
The presence of horseshoe kidney in abdominal ultrasonography.
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fig5
His abdominal CT did not reveal any abnormalities except the horseshoe kidney (Figure 5).