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Newborns, infants, and young children require special handling to prevent injury

Very specific guidelines needed about restricting activities while promoting play, socialization, education, and development

Education is required for family to understand the severity of the disease and how its genetically linked

Encourage families to seek support and further education from national organizations for OI

*National Organization for Rare Diseases & the Osteogenesis Imperfecta Foundation

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Cannot be treated medically

Supportive care and genetic counseling offered

Goal is to reduce possibility of further fractures, prevent development of contractures, promote safety, & reduce injury

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*Prenatal screening typically not performed for this rare disorder, early identification is by death in utero or a newborn suffering many fractures during birth
*If prenatal diagnostics are done and disease is identified in utero, infant must be delivered via c-section for greatest chance of safety and survival
Child may or may not present with:
1.  bluish discoloration of the sclera
2.  hearing loss
3.  joint laxity (looseness, flexability)
4. poor structure of bones that support the teeth

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Managing the patient with osteogenesis imperfecta - Video abstract (ID113483)

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Video abstract of Review paper "Managing the patient with osteogenesis imperfecta: a multidisciplinary approach" published in the open access Journal of Multidisciplinary Healthcareby authors Marr et al. Abstract: Osteogenesis imperfecta (OI) is a heterogeneous heritable connective tissue disorder characterized by low bone density. The type and severity of OI are variable.

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*Defect in the genes that produce the precursor of collagen
*Genetically linked, autosomal dominant, heterogenous disease
*Child suffers from fractures & skeletal deformities
*Disorder may be so severe infant may not survive the birthing process