2.1 Clinical report
The proband
(III-3)
was a 21-year-old male who was admitted to Tongji Hospital of Tongji
Medical College of Huazhong University of Science and Technology (Wuhan,
China) due to his leg deformity with limited physical activity. The
clinical examination concluded that the proband was diagnosed with HME
at orthopedics department. Three
generations of the patient family were included in this study with five
individuals having HME (Fig. 1 ). In the study,
the proband’s cousin (III-2)
requested a premarital genetic counseling in Tongji Hospital to learn
her HME-risk status.