case_images: PMC4255054_01
case_images: Patient's skeletal survey in favor of hypochondroplasia.
case_images: CRIE2014-840492.001.jpg
case_images: PMC4255054_01_CRIE2014-840492.001.jpg
case_images: fig1
case_images: 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).
case_images: Patient's growth chart.  *Midparental height.
case_images: CRIE2014-840492.002.jpg
case_images: PMC4255054_01_CRIE2014-840492.002.jpg
case_images: fig2
case_images: His growth velocity improved to 5 cm per year; however, his height remained below SDS -3.0 (Figure 2).
case_images: Acanthosis nigricans around the patient's neck.
case_images: CRIE2014-840492.003.jpg
case_images: PMC4255054_01_CRIE2014-840492.003.jpg
case_images: fig3
case_images: 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).
case_images: 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.
case_images: CRIE2014-840492.004.jpg
case_images: PMC4255054_01_CRIE2014-840492.004.jpg
case_images: fig4
case_images: 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).