Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content ++ Brittle bone disease ++ 756.51 Osteogenesis imperfecta ++ Q78.0 Osteogenesis imperfecta ++ 5B: Impaired Neuromotor Development +++ Description ++ Autosomal dominant genetic disorder that affects type I collagen resulting in osteopenia and frequent fractures that may be apparent in a newborn infant +++ Essentials of Diagnosis ++ Four typesType I: Mild (most common)Type II: Perinatal lethalType III: Progressive deformingType IV: Deforming with normal sclerasTypes I and IV do not have fractures while in uteroType II characterized by fractures in uteroType III characterized by fractures at birth or as infant +++ General Considerations ++ Disorder results from type I collagen impairment that affects skin, bone, connective tissue of organs (including GI tract), and vascular systemType I: fewer fractures after puberty; short stature and hearing loss as adult; blue sclera Type II: usually results in death during infancy due to respiratory problemsType III: usually non-ambulatory as an adult due to progressive deformities from multiple fractures over time; sclera affected; short stature, scoliosisType IV: short stature as adult, fractures continue as adult, but remains ambulatory; scoliosis; hearing loss; sclera unaffected +++ Demographics ++ 1 in 20,000 births2InfantsMales and females affected equally2 +++ Signs and Symptoms ++ Fracture(s) at various times throughout lifespan (dependent on type of OI)Blue scleraDeafness at early ageGenu varum (bow legged)ScoliosisKyphosisMuscle weaknessJoint laxityBrittle teeth +++ Functional Implications ++ May cause short stature or joint deformities that can interfere with functionMay cause developmental delay due to immobility or casting associated with fracturesWeakness may limit function +++ Possible Contributing Causes ++ Inherited disorder +++ Differential Diagnoses ++ Child abuseJuvenile osteoporosisTemporary brittle-bone syndromeHypophosphatasiaMenkes syndromeSteroid-induced osteoporosis +++ Laboratory Tests ++ DNA analysisCollagen testing +++ Imaging ++ Prenatal ultrasoundX-rays +++ Diagnostic Procedures ++ Chorionic villus sampling (CVS)AmniocentesisSkin punch biopsy ++ Chorionic villus sampling (CVS) is a prenatal test identifying chromosome abnormalities and other inherited disorders +++ Medication ++ Pamidronate +++ Medical Procedures ++ Surgical correction of fractures, such as intramedullary rodSurgical correction of scoliosis ++ To hospital for surgical repair of fractures as neededTo geneticist for testing (especially if interested in offspring)To occupational therapistTo orthosistTo orthopedic surgeonTo audiologist ++ Gross motor delayUnable to sit independentlyUnable to creep on hands and kneesUnable to stand at furnitureDecreased strengthDecreased ROMDependent ... Your Access profile is currently affiliated with [InstitutionA] and is in the process of switching affiliations to [InstitutionB]. Please select how you would like to proceed. Keep the current affiliation with [InstitutionA] and continue with the Access profile sign in process Switch affiliation to [InstitutionB] and continue with the Access profile sign in process Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Error: Incorrect UserName or Password Username Error: Please enter User Name Password Error: Please enter Password Sign in Forgot Password? Forgot Username? Download the Access App: iOS | Android Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free profile for additional features.