PMC2878673_01
PMC2878673_02
Direct sequencing data indicated that this patient carries the Cys278Phe mutation in the exon IIIa of FGFR2 gene.
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Chromosome analysis was normal in G-banding karyotype; however, molecular analysis identified a common mutation point of Cys278Phe in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene (Figure 1).
The patient's bone age was only 4.5-5 years according to the Greulich and Pyle atlas.
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His bone age was only 4.5-5 years according to the Greulich and Pyle atlas (Figure 2), which was a 6.5-7- year delay.
MRI revealed obstructive hydrocephalus of both lateral ventricles, shallow orbits, and cerebellar tonsil herniation (Chiari I malformation). Pituitary height was 5.6 mm in midsagittal T1-weighted spin-echo MRI.
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Pituitary height was 5.6 mm in midsagittal T1-weighted spin-echo MRI (Figure 3), which was around mean according to Tsunoda's study. 