Osteopetrosis and Hip Fracture. Case Report and Literature Review

Osteopetrosis constitutes a group of genetic disorders that determine skeletal sclerosis. It is also known as Albers-Schonberg disease. It is transmitted in both an autosomal dominant and recessive manner. Its early diagnosis makes it possible to treat the underlying pathology and the fracture early...

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Main Authors: Liyanira Alonso Leiva, José Julio Requeiro Molina, Ana María Machado Consuegra
Format: Article
Language:Spanish
Published: Universidad de las Ciencias Médicas de Cienfuegos 2022-11-01
Series:Revista Finlay
Subjects:
Online Access:https://revfinlay.sld.cu/index.php/finlay/article/view/1181
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author Liyanira Alonso Leiva
José Julio Requeiro Molina
Ana María Machado Consuegra
author_facet Liyanira Alonso Leiva
José Julio Requeiro Molina
Ana María Machado Consuegra
author_sort Liyanira Alonso Leiva
collection DOAJ
description Osteopetrosis constitutes a group of genetic disorders that determine skeletal sclerosis. It is also known as Albers-Schonberg disease. It is transmitted in both an autosomal dominant and recessive manner. Its early diagnosis makes it possible to treat the underlying pathology and the fracture early, in order to achieve bone consolidation and incorporate patients into their daily lives with a favorable evolution. We present the case of a 10-year-old female patient, white-skinned, who had been in consultation at the Frank País García International Orthopedic Scientific Complex since she was 4 years old, where she was diagnosed with osteopetrosis. Six years later, he fell off his feet and sustained trauma to his right hip. It started with severe pain, swelling and difficulty walking. The patient attended the Paquito González Cueto Pediatric University Hospital in Cienfuegos where she was evaluated by pediatric, orthopedic and traumatology specialists. A hip x-ray was performed where the diagnosis of right hip fracture was confirmed, for which he was admitted for surgical treatment. The case is presented with the objective of exposing the approach to this type of disease and the treatment method, motivated by its low frequency of presentation.
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spelling doaj.art-2fd93bc44c13446a940bed2e92d643892025-01-30T21:22:01ZspaUniversidad de las Ciencias Médicas de CienfuegosRevista Finlay2221-24342022-11-01124480484601Osteopetrosis and Hip Fracture. Case Report and Literature ReviewLiyanira Alonso Leiva0José Julio Requeiro Molina1Ana María Machado Consuegra2Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Osteopetrosis constitutes a group of genetic disorders that determine skeletal sclerosis. It is also known as Albers-Schonberg disease. It is transmitted in both an autosomal dominant and recessive manner. Its early diagnosis makes it possible to treat the underlying pathology and the fracture early, in order to achieve bone consolidation and incorporate patients into their daily lives with a favorable evolution. We present the case of a 10-year-old female patient, white-skinned, who had been in consultation at the Frank País García International Orthopedic Scientific Complex since she was 4 years old, where she was diagnosed with osteopetrosis. Six years later, he fell off his feet and sustained trauma to his right hip. It started with severe pain, swelling and difficulty walking. The patient attended the Paquito González Cueto Pediatric University Hospital in Cienfuegos where she was evaluated by pediatric, orthopedic and traumatology specialists. A hip x-ray was performed where the diagnosis of right hip fracture was confirmed, for which he was admitted for surgical treatment. The case is presented with the objective of exposing the approach to this type of disease and the treatment method, motivated by its low frequency of presentation.https://revfinlay.sld.cu/index.php/finlay/article/view/1181trastornos genéticososteopetrosisreporte de casos
spellingShingle Liyanira Alonso Leiva
José Julio Requeiro Molina
Ana María Machado Consuegra
Osteopetrosis and Hip Fracture. Case Report and Literature Review
Revista Finlay
trastornos genéticos
osteopetrosis
reporte de casos
title Osteopetrosis and Hip Fracture. Case Report and Literature Review
title_full Osteopetrosis and Hip Fracture. Case Report and Literature Review
title_fullStr Osteopetrosis and Hip Fracture. Case Report and Literature Review
title_full_unstemmed Osteopetrosis and Hip Fracture. Case Report and Literature Review
title_short Osteopetrosis and Hip Fracture. Case Report and Literature Review
title_sort osteopetrosis and hip fracture case report and literature review
topic trastornos genéticos
osteopetrosis
reporte de casos
url https://revfinlay.sld.cu/index.php/finlay/article/view/1181
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AT josejuliorequeiromolina osteopetrosisandhipfracturecasereportandliteraturereview
AT anamariamachadoconsuegra osteopetrosisandhipfracturecasereportandliteraturereview