osteogenesis imperfecta
Conditions
Interventions
Underage group (<18 years old) and adult group (= 18 years old):None
Sponsors
Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
Eligibility
Sex/Gender
All
Age
No minimum to 100 Years
Inclusion criteria
Inclusion criteria: (1) Recurrent fragility fractures. (2) Presence of extra skeletal phenotypes such as blue sclera, dentin hypoplasia, and hearing loss. (3) The presence of COL1A1, COL1A2, IFITM5, SERPINF1, CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, PLOD2, SP7, BMP1, TMEM38B, WNT1, CREB3L1, SPARC, SEC24D, P4HB, PLS3, MBTPS2, FAM46A, MESD, KDELR2, CCDC134, NBAS mutations in any gene. (4) Voluntary participation in this study.
Exclusion criteria
Exclusion criteria: (1) Other causes of low bone mass disease, such as primary osteoporosis, other causes of secondary osteoporosis, hypophosphatasia, osteochondrosis, etc. (2) Poor compliance and inability to follow up regularly. (3) Unwillingness to participate in this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Lumbar bone mineral density; | — |
Secondary
| Measure | Time frame |
|---|---|
| Bone turnover markers;Total hip bone mineral density; | — |
Countries
China
Contacts
Public ContactHao Zhang
Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
Outcome results
None listed