PMC2934777_01
Patient's family tree. For representativeness of this large family, safe progenies are represented by female or male symbol preceded by the number of subjects. Numbers noted close to dead subjects indicate age at death.
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fig1
The cause of these precocious deaths was unknown, however, some of these subjects presented seizures during life (Figure 1).
Frontal facial appearance.
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fig2
His aspect was coarse with a pugilistic facial appearance with prominent forehead and supraorbital ridges, dense scalp hair, and broad nasal root (Figures 2 and 3).
Lateral physical appearance. Note the android obesity.
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fig3
His aspect was coarse with a pugilistic facial appearance with prominent forehead and supraorbital ridges, dense scalp hair, and broad nasal root (Figures 2 and 3).
Cubitus varus of both elbows more marked in left.
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fig4
He had a cubitus varus with a lack of full extension and a limitation of supination of both elbows, more marked on the left (Figure 4), small testicles measuring 1 cm in diameter, a small penis, no breast, facial nor axillary hair, with sparse pubic hair.
Image of the fundus showing retinitis pigmentosa: pigmentary deposits with attenuation of the retinal vessels.
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fig5
Ophthalmic exam showed retinitis pigmentosa (Figure 5) and cataract.
Abdominal CT: unilateral left renal aplasia.
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fig6
Tc-99m methylene diphosphonate scintigraphy (Figures 6 and 7). The liver was normal on ultrasound and computed tomography.
Tc-99m methylene diphosphonate scintigraphy: unilateral left renal aplasia.
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fig7
Tc-99m methylene diphosphonate scintigraphy (Figures 6 and 7). The liver was normal on ultrasound and computed tomography.