Matches in SemOpenAlex for { <https://semopenalex.org/work/W3021689570> ?p ?o ?g. }
- W3021689570 abstract "Publisher SummaryThis chapter focuses on osteogenesis imperfecta (OI), which is a highly variable heritable disease of bone characterized by recurring bone fractures. Three degrees of deforming OI, types II, III, and IV, are associated with decreasing severity of growth retardation and limb deformity and all result from a mutation affecting the structure of the type 1 collagen molecule. Most infants that succumb to OI in the perinatal period are considered OI type II. The hallmarks of type II include shortened and deformed limbs in the presence of normal birth weight and length. Faulty thoracic musculoskeletal development also limits respiratory function in the majority of cases. Infants born with fractures and deformity that survive the perinatal period are grouped as OI type III. The natural history of type III includes the presence of multiple fractures, significant molding of the calvarium, and deformity of the extremities at birth. Fractures may continue to occur in infancy and childhood precluding a normal pattern of ambulation. Infants that appear normal at birth but develop deformity upon ambulation generally fall into the OI type IV group, although this form can merge into features seen in OI type I. Moderate short stature is common, but ambulation is generally possible with the aid of rods and braces. Radiologically, the extent of skeletal dysplasia in type IV disease is more severe than found in type I cases, but less than in type HI OI. There is more severe osteoporosis with significant cortical and trabecular bone loss." @default.
- W3021689570 created "2020-05-13" @default.
- W3021689570 creator A5067453135 @default.
- W3021689570 date "2002-01-01" @default.
- W3021689570 modified "2023-10-12" @default.
- W3021689570 title "Osteogenesis Imperfecta" @default.
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