genetic skeletal disorders
Conditions
Interventions
Case series:Nil
Sponsors
Shanghai Jiao Tong University Affiliated Sixth People's Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Patients with unexplained skeletal pain or (and) malformations, limited joint mobility, multiple fractures, large callus after fracture, abnormal bone density, with or without involvement of other organs (such as blue sclera , polycystic kidney disease, cleft lip and palate, hearing and vision abnormalities, etc.); 2. The patient's height is lower than that of the normal peers by 3SD or the proportion of body is obviously abnormal (the difference between arm extension and height is significant, the proportion of upper and lower parts is maladjusted, the limbs on both sides are asymmetrical, etc.); 3. The patient had an early onset, had a significant family history or was a close relative married offspring; 4. Laboratory biochemical are abnormal or (and) imaging findings show abnormal skeletal development; 5. Patients or family members sign informed consent in person; 6. Patients are willing and able to comply with research visit arrangements, laboratory tests, and other research procedures.
Exclusion criteria
Exclusion criteria: 1. Skeletal phenotype caused by other system disorders, such as nephrotic syndrome, chronic renal failure, Fanconi syndrome caused by renal tubular acidosis, hyperparathyroidism, pituitary pygmy, etc, and other types of rheumatic immunity diseases such as ankylosing spondylitis; 2. Bone dysplasia caused by nutritional deficiencies, such as rickets caused by insufficient intake of vitamin D, and metabolic disrders; 3. Long-term use of drugs that affect bone metabolism, such as glucocorticoids, adrenalin, synthetic steroid hormone, heparin, anticonvulsant drugs; 4. Combined with other serious diseases, such as osteosarcoma, malignant hematological diseases; 5. Other causes of abnormal bone metabolism, such as heavy metal poisoning, high fluoride intake, etc; 6. People who abuse alcohol and/or use psychoactive drugs, drug abusers and dependents; 7. Other circumstances that the investigator considers inappropriate for participation in this trial.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| phenotype-gene mutation spectrum; | — |
Countries
China
Contacts
Public ContactZhen-lin Zhang
Shanghai Jiao Tong University Affiliated Sixth People's Hospital
Outcome results
None listed