• Pilar Caudevilla Lafuente, Antonio de Arriba Muñoz, Silvia Izquierdo Álvarez, Marta Ferrer Lozano, Marta Medrano San Ildefonso, and José Ignacio Labarta Aizpún.
• Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
• Med Clin (Barc). 2020 Jun 26; 154 (12): 512-518.

IntroductionOsteogenesis imperfecta (OI) is a heterogeneous genetic disease manifesting as bone fragility and fractures.Patients And MethodsRetrospective descriptive study analysing clinical and genetic features, and treatment of patients with OI.ResultsForty patients were included; 32.5% males, 67.5% females; 29 children, 11 adults. Number of fractures at diagnosis with mild OI was 4.6±6.4 (average age at diagnosis 7.8±12.8years), with moderate OI 1.7±2.4 (age at diagnosis .04±.3years), in severe OI 3.7±2.1 and in extremely severe forms 12.5±7.8, both groups diagnosed at birth. Genetic study in 32 patients, 25 with a positive genetic study (pathogenic/probably pathogenic variant). COL1A1 gene was the most frequently affected. In 7 patients, no pathogenic or probably pathogenic variant was found (5 diagnosed by biochemical study of typeI collagen). Nineteen patients were treated with bisphosphonates; 7 combined with growth hormone. The patients treated with bisphosphonates showed clinical improvement (reduction of bone pain and/or irritability) and reduction of fractures.ConclusionsThe COL1A1 gene is the most frequently affected. OI patients should receive multidisciplinary management and bisphosphonates can improve their quality of life.Copyright © 2020 Elsevier España, S.L.U. All rights reserved.

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