PMC3420572_01
A 9-year-old girl with pseudomuscular hypertrophy in Kocher-Debre-Semelaigne syndrome.
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fig1
On examination she was found to be grossly short statured [height  =  100 cms against expected of 132.5 cms (75.5%)] with prominent muscular build but with infantile proportions (Figure 1).
Facial features in the same girl with Kocher-Debre-Semelaigne syndrome.
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fig2
She had hoarseness of voice, a dry texture of hair and skin, and infantile facies with macroglossia and pouting lips (Figure 2).
PMC3420572_02
A ten-year-old boy with pseudomuscular hypertrophy in Kocher-Debre-Semelaigne syndrome.
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fig3
Another case is a ten-year-old boy hailing from Narketpally (Andhra Pradesh, India) with similar symptoms and signs (Figures 3 and 4) presented to our unit.
Calf pseudohypertrophy in the same boy with Kocher-Debre-Semelaigne syndrome.
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PMC3420572_02_CRIM.ENDOCRINOLOGY2012-153143.004.jpg
fig4
Another case is a ten-year-old boy hailing from Narketpally (Andhra Pradesh, India) with similar symptoms and signs (Figures 3 and 4) presented to our unit.