case_images: PMC3701920_01
case_images: Pedigree of the patient
case_images: JCRPE-5-129-g2.jpg
case_images: PMC3701920_01_JCRPE-5-129-g2.jpg
case_images: f1
case_images: The pedigree of the patient is shown in Figure 1.
case_images: Plain bone radiography of the left wrist
case_images: JCRPE-5-129-g3.jpg
case_images: PMC3701920_01_JCRPE-5-129-g3.jpg
case_images: f2
case_images: Plain bone radiography of the left wrist and hand demonstrated open metacarpal and phalangeal epiphyses, and the bone age was estimated as 15 years (Figure 2).
case_images: A) Analysis of genetic mutation: Homozygous R375HG-A mutation (CYP19A1gene); B) Analysis of genetic mutation:Heterozygous R375H G- A mutation (CYP19A1gene)
case_images: JCRPE-5-129-g4.jpg
case_images: PMC3701920_01_JCRPE-5-129-g4.jpg
case_images: f3
case_images: A homozygous R375H guanine-adenine (G-A) mutation was detected in the CYP19A1 gene (Figure 3a). The genetic analysis of the family members revealed a homozygous R375H G-A mutation in the younger brother and heterozygous R375H G-A mutation in the mother, father, and older brother (Figure 3b).