2023
DOI: 10.1136/bcr-2022-253155
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Osteogenesis imperfecta type VIII: highlighting the need for genetic testing

Abstract: We report a severe form of osteogenesis imperfecta (OI) type VIII from a lower-middle income country. This is the first case report of this type in Tanzania. The term neonate was delivered normally via spontaneous vaginal delivery and presented at the neonatal unit with features of shortened limb girdles and macrocephaly. The long bones had multiple fractures. He was diagnosed clinically to have OI or a type of metaphysial dysplasia. A plain X-ray showed multiple fractures of the long bones. The eyes did not h… Show more

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