Anthropometry 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 کاملOsteogenesis imperfecta
Keywords Disease name and synonyms Definition/Diagnosis criteria Differential diagnosis Frequency Clinical description Etiology Diagnostic methods Management Treatment Genetic counselling References Abstract Osteogenesis imperfecta (OI) is a group of inherited diseases responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone deformities. A ...
متن کاملOsteogenesis imperfecta.
Our clinical files on osteogenesis imperfecta are brought up-to-date reviewing a total of 33,555 cases admitted between 4/XII/48 and 31/VIII/76. From these, 5 clinical cases were found. The extreme rareness of this regional pathology in our Cátedra y Sericio de Pediatría, which is the largest concentration center in Paraguay had led us to make this publication. From our casuistics, we may singl...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1999
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.80.6.524