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Published:
Nov 24, 2015Keywords:
Osteogenesis imperfecta newborn prenatal diagnosis
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Perinatal lethal type II osteogenesis imperfecta: a case report
Abstract
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 presented immediate respiratory distress. Postnatal examination and bone radiography confirmed the diagnosis of OI type IIA. Death occurred on day 25 of life related to respiratory failure.
Key words: Osteogenesis imperfecta, newborn,prenatal diagnosis
