PMC4255054_01
Patient's skeletal survey in favor of hypochondroplasia.
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fig1
The spinal X-ray showed short pedicles with mild posterior scalloping of the upper lumbar vertebrae and lack of interpedicular distances on the AP view of the lumbar spine (Figure 1).
Patient's growth chart.  *Midparental height.
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fig2
His growth velocity improved to 5 cm per year; however, his height remained below SDS -3.0 (Figure 2).
Acanthosis nigricans around the patient's neck.
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fig3
At the age of 9 years and 10 months, after almost 3 years of growth hormone treatment, he developed normoinsulinemic acanthosis nigricans around his neck (Figure 3).
Electropherogram showing the heterozygous base change from cytosine to adenine (arrow) in the FGFR3 gene, which leads to the substitution of asparagine (N) to lysine (K) at codon 540 of the FGFR3 protein.
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fig4
A heterozygous c.1620C>A transversion was identified resulting in asparagine to lysine (p.N540K) substitution in tyrosine kinase domain of the FGFR3 (Figure 4).