AB107. Study of functional independence of patients with osteogenesis imperfecta
نویسندگان
چکیده
منابع مشابه
The Spine in Patients With Osteogenesis Imperfecta.
Osteogenesis imperfecta is a genetic disorder of type I collagen. Although multiple genotypes and phenotypes are associated with osteogenesis imperfecta, approximately 90% of the mutations are in the COL1A1 and COL1A2 genes. Osteogenesis imperfecta is characterized by bone fragility. Patients typically have multiple fractures or limb deformity; however, the spine can also be affected. Spinal ma...
متن کاملPersonalized medicine in patients with Osteogenesis imperfecta
Results With this change of therapy we were able to reduce bone resorption to the normal range [2]. After two years of treatment both patients show an increase of bone mineral density of the lumbar spine with a z-score from – 2.4 to -2.0 and -4.3 to 2.5 respectively and an increase of projected vertebral area L2 – L4 [mm2] from 1670 to 2152 and from 1424 to 1528. No severe side effects were see...
متن کاملThe craniofacial characteristics of osteogenesis imperfecta patients.
The aim of this study was to identify the craniofacial characteristics of 16 osteogenesis imperfecta (OI) patients, 10 males and 6 females, aged 7-15 years. The control group comprised 863 Chinese children from 6 to 18 years of age. Eleven cephalometric reference points and 25 variables were measured on the lateral cephalometric radiographs. Cochrane's method of unequal variance t-test was used...
متن کاملGenotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta
BACKGROUND Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass. METHODS The presence of COL1A1 or COL1A2 mutation was investigated by direct sequencing in 72 patients with OI type I, III, or IV (27 males and 45 females; age range 0.2-62 years) from 37 unrelated families. The clinical features of these patients were also recorded. ...
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ژورنال
عنوان ژورنال: Annals of Translational Medicine
سال: 2017
ISSN: 2305-5839,2305-5847
DOI: 10.21037/atm.2017.s107