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 months of age. This was accompanied by extensive demineralization and recurrent diaphyseal fractures that were most frequent in the second year of life. Communicating hydrocephalus and orbital craniosynostosis were also noted in the first year of life. In one patient, a shunt was installed and craniofacial surgery was undertaken to correct proptosis and dysmorphic features. At 3 and 5 years of age, intellectual performance is unimpaired in both, but they are dwarfed, kyphoscoliotic, and markedly handicapped by bony deformities. Bone biopsy reveals decreased bone volume and increased bone resorption without compensatory new bone formation. Although neither electron microscopy nor fragment mapping of fibroblast collagens is abnormal, clinical features, including enamel hypoplasia, high-pitched voice, blue sclerae, joint laxity, thin skin with easy bruising, and poor wound healing, all suggest generalized connective tissue involvement. Cytogenetic and extensive biochemical investigations have failed to suggest an etiology; further elucidation requires identification and study of new cases.
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Cole, D., Carpenter, T. BONE FRAGILITY, CRANIOSYNOSTOSIS, HYDROCEPHALUS AND OCULAR PROPTOSIS: FURTHER OBSERVATIONS ON A NEWLY RECOGNIZED TYPE OF OSTEOGENESIS IMPERFECTA (OI). Pediatr Res 21 (Suppl 4), 226 (1987). https://doi.org/10.1203/00006450-198704010-00360
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DOI: https://doi.org/10.1203/00006450-198704010-00360