Bone Fragility, Craniosynostosis, Hydrocephalus and Ocular Proptosis: Further Observations on a Newly Recognized Type of Osteogenesis Imperfecta (oi)

Abstract

We reported 2 unrelated infants who presented with bone deformities and multiple fractures reminiscent of 01, but also displayed ocular proptosis, orbital craniosynostosis, hydrocephalus and distinctive, strikingly similar facial features. Both were unaffected at birth but suffered multiple raetaphyseal compression fractures of the long bones at 2 to 4… (More)
DOI: 10.1203/00006450-198704010-00360

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