A case of osteogenesis imperfecta type II, a diagnosis made almost too late in a resource poor setting
نویسندگان
چکیده
منابع مشابه
Prenatal 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...
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We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents refused pregnancy termination; they felt that the diagnosis was late. At birth, the newborn presen...
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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...
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15 صفحه اولOsteogenesis imperfecta type II: postmortem histological diagnosis on curettage material
manifestations that are regarded nontypical for the full-blown disease. Case report A 35-year-old G2P1 Caucasian woman had her first-trimester ultrasound evaluation. The histological picture was typical of osteogenesis imperfecta type II/III. The combination of severe distortion of the limb bones with rib and limb fractures, in association with the above histopathology, permitted the diagnosis ...
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ژورنال
عنوان ژورنال: Nigerian Journal of Paediatrics
سال: 2014
ISSN: 0302-4660
DOI: 10.4314/njp.v41i2.12