منابع مشابه
Osteogenesis imperfecta type V, spot diagnosis
BACKGROUND The first case of Osteogenesis Imperfecta Type V in the Polish literature is reported. CASE REPORT Skeletal survey of an 8 year old girl with a history of multiple fractures and bilateral dislocation of radial heads was received for consultation. CONCLUSIONS Generalised osteoporosis with multiple fractures, periosteal thickening and bilateral dislocation of the radial heads are c...
متن کاملHeterogeneity of osteogenesis imperfecta type I.
We have studied 166 patients from 71 families with Sillence type I osteogenesis imperfecta (dominant inheritance and blue sclerae). We confirm earlier findings that there are two subgroups, those with and those without dentinogenesis imperfecta; each family can be allocated to one or other group. Our confidence that the two groups represent distinct disorders is increased by finding that the pa...
متن کاملPrenatal diagnosis of osteogenesis imperfecta type II.
OBJECTIVE To characterize the prenatal sonographic features of osteogenesis imperfecta (OI) type II. DESIGN Descriptive (case series). SETTING Department of Obstetrics and Gynecology, Faculty of Medicine, Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University. SUBJECTS Six fetuses with prenatal diagnosis of OI were evaluated. RESULTS Six fetuses were prenatally diagnosed as OI type I...
متن کاملOsteogenesis imperfecta type I: A case report
A 15-year-old male patient was admitted to hospital having experienced repeated fractures over the previous three years, predominantly due to falling down or overexertion. The clinical signs and radiological features, such as recurrent fractures, blue sclera and low bone mineral density (BMD) level, all led to the diagnosis of a mild form of osteogenesis imperfecta (OI) type I. The patient bega...
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 ...
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ژورنال
عنوان ژورنال: International Journal of Contemporary Pediatrics
سال: 2016
ISSN: 2349-3283
DOI: 10.18203/2349-3291.ijcp20160174