Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: A newly recognized type of osteogenesis imperfecta
Cole E, Carpenter T. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: A newly recognized type of osteogenesis imperfecta. The Journal Of Pediatrics 1987, 110: 76-80. PMID: 3794889, DOI: 10.1016/s0022-3476(87)80292-5.Peer-Reviewed Original ResearchConceptsDistinctive facial featuresOsteogenesis imperfectaOcular proptosisMultiple compression fracturesWeight-bearing bonesDistinctive dysmorphic featuresBone biopsyCompression fracturesNew bone formationBone resorptionDiaphyseal fracturesBone fragilityBone deformitiesBone volumeExtensive demineralizationNew casesDysmorphic featuresFirst birthdayHydrocephalusBone formationLong bonesProptosisMultiple fracturesImperfectaFurther elucidation