title: Severe osteogenesis imperfecta Type-III and its challenging treatment in newborn and preschool children. A systematic review.
abstract: Osteogenesis imperfecta (OI) is a group of genetic disorders, of which Type III is the most severe among survivors. The disease is characterised in particular by bone fragility, decreased bone mass and increased incidence of fractures. Other usual findings are muscle hypotonia, joint hypermobility and short stature. Fractures and weak bones may consequently cause limb and spinal deformity and chronic physical disability. Bisphosphonates have revolutionised the treatment of newborn children with severe OI type III. Surgery is still needed in most patients due to high frequency of the fractures. In this systematic review we describe the present state-of-art in treating the most severe type of OI in newborn and preschool children with their bone fractures.
authors.affiliation: Division of Paediatric Surgery and orthopaedics, Oulu University Hospital; Oulu Cranifacial Centre, Oulu; Medical Research Center Oulu; PEDEGO Research Center, Finland. Electronic address: juha-jaakko.sinikumpu@ppshp.fi.
authors.forename: Juha-Jaakko
authors.initials: JJ
authors.lastname: Sinikumpu
authors.affiliation: Institute of Clinical Medicine, Department of Pediatrics, University of Oulu and Department of Pediatrics and Adolescence, Oulu University Hospital; Medical Research Center Oulu; PEDEGO Research Center, Finland.
authors.forename: Marja
authors.initials: M
authors.lastname: Ojaniemi
authors.affiliation: Surgery Clinic, Oulu University Hospital; Department of Anatomy and Molecular Cell Biology; Oulu University; Medical Research Center Oulu, Finland.
authors.forename: Petri
authors.initials: P
authors.lastname: Lehenkari
authors.affiliation: Department of Children and Adolescents, Oulu University Hospital; Oulu Craniofacial Centre, Oulu; Medical Research Center Oulu; PEDEGO Research Center, Finland.
authors.forename: Willy
authors.initials: W
authors.lastname: Serlo
mesh_terms: D002648:Child; D002675:Child, Preschool; D004164:Diphosphonates / Q000627:therapeutic use*; D050723:Fractures, Bone / Q000209:etiology / Q000517:prevention & control* / Q000628:therapy; D006801:Humans; D007103:Immobilization; D007223:Infant; D007231:Infant, Newborn; D019637:Orthopedic Procedures / Q000639:trends*; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D000077268:Pamidronate; D026741:Physical Therapy Modalities; D011379:Prognosis
chemical_list: D004164:Diphosphonates; D000077268:Pamidronate
keywords: Bisphosphonate; Children; Fractures; Osteogenesis imperfecta; Severe; Surgical treatment