Osteogénesis imperfecta: tratamiento y resultado de una serie de casos

Escribano-Rey, R.J.; Duart, Julio; Llana, O. Martínez de la; Beguiristain-Gurpide, J.L.

doi:10.1016/j.recot.2013.11.007

Cited by 7 publications

(8 citation statements)

References 23 publications

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“…By analyzing the effectiveness of rods in patients with Sillence type III OI, we observed more complications and an increased requirement for revisions compared with other patients; the same was observed by Lee et al, 25 Escribano-Rey et al, 27 and Boutaud et al 32 These findings lead to the question of whether rods are more efficient for patients with type IV OI or whether the complication rate is related to the clinical severity among these patients. The evaluation of complications among TIR groups, distributed by age, have showed that most revision operations were required in patients that had surgery between five and ten years old (Table 1).…”

Section: Discussionsupporting

confidence: 78%

“…Initially, OI must be clinically treated using bisphosphonates to increase bone resistance and mineral density [17][18][19][20][21][22][23][24] . In moderate and severe cases where children present with excessive fractures or deformities, surgical treatment using intramedullary rods is recommended 3,10,[25][26][27] ,which aids in correcting these problems and facilitates the possibility of walking in severely affected patients, thus improving their quality of life 2,6,10,13,[27][28][29][30][31] . Telescopic rods have evident advantages, as they require fewer surgical interventions in response to children's growth compared with non-telescopic rods because of their ability to adapt to bone growth, serve as an internal template and prevent deformities 3,9,[32][33][34][35] .…”

Section: Discussionmentioning

confidence: 99%

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Effects of a telescopic intramedullary rod for treating patients with osteogenesis imperfecta of the femur

Rosemberg

Goiano

Akkari

et al. 2018

Journal of Children's Orthopaedics

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PurposeTo introduce a new model of telescopic intramedullary rod (TIR), evaluate its effects on treating patients presenting with moderate and severe osteogenesis imperfecta (OI) and to compare the findings with those of other telescopic rods.MethodsA total of 21 patients (nine girls and 12 boys; mean age at first operation, 6.6 years, 1.52 to 13.18) who underwent 52 femoral operations were monitored during a mean of 9.96 years (3.39 to 14.54). Patient characteristics, telescoping rod capability and its complications were examined.ResultsAccording to the Sillence classification, we investigated one patient with type I, nine with type III and 11 with type IV OI. Revision rates at up to five years (36%) were inferior to those found for the Fassier-Duval rod (46%). The main cause of revision was fracture (15 patients), followed by rod migration (nine), and infection (two). The rod exhibited higher telescopic capacity in boys than girls. Type III most commonly required an operation; the age group with the highest number of procedures was five to ten years. Male migration was the main cause of rod migration.ConclusionThe TIR has a satisfactory cost-benefit ratio with less complication rates and low production costs. The TIR is a feasible alternative to the commonly used Fassier-Duval rod.Level of EvidenceIV

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Effects of a telescopic intramedullary rod for treating patients with osteogenesis imperfecta of the femur

Rosemberg

Goiano

Akkari

et al. 2018

Journal of Children's Orthopaedics

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“…La osteogénesis imperfecta es una rara enfermedad hereditaria en la que el gen que codifica el colágeno tipo I se encuentra alterado, lo cual ocasiona una deformidad ósea progresiva, misma que puede estar asociada o no a fracturas, un retraso en el crecimiento, escleras azuladas, pérdida de la audición, afecciones pulmonares y regurgitación valvular cardíaca, así lo mencionan Okawa y Escribano-Rey en su estudio respectivamente [7][8] .…”

Section: Discussionunclassified

“…Según Heys y col en su artículo la osteogénesis imperfecta es conocida también como huesos frágiles, huesos de vidrio o enfermedad de Lobstein descrita en 1835 [8][9] .…”

Section: Discussionunclassified

Caso Clínico: Gorlin Goltz asociado a Osteogénesis Imperfecta

Mosquera

Portilla

Vernimmen

2019

OdontoInvestigación

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Los tumores odontogénicos queratoquístico son tumores benignos localmente agresivos que se presentan en el maxilar y mandíbula con un alto índice de recurrencia. Estos tumores suelen presentarse de forma única principalmente en el área del ángulo mandibular. En ciertas ocasiones estos tumores están asociados a síndromes como Gorlin Goltz. En el que se observan múltiples queratoquistes en los maxilares. En este artículo presentamos el caso clínico de una paciente con múltiples queratoquistes la cual también presenta osteogénesis imperfecta. Se revisó la literatura para determinar una asociación entre la osteogénesis imperfecta y múltiples queratoquistes.

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“…Seven forms of OI have been described, five of which are of known genetic origin and two with the OI phenotype without the characteristic mutations in the genes involved in the disease (14), being in most cases autosomal dominant or the novo heterocygous mutations in one of the two genes that codify procollagen I, COL1A1 and COL1A2 peptide chains. Currently have been described mutations in different genes, such us in interferon-induced transmembrane protein 5 (IFITM5), although this is unusual (15).…”

Section: Discussionmentioning

confidence: 99%

An atypical fracture in male patient with osteogenesis imperfecta

Etxebarría-Foronda

Carpintero

2015

ccmbm

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SummarySo-called atypical fractures have been related to prolonged treatment with bisphosphonates. Although there remain unanswered questions with respect to their etiology and physiopathology, it does appear to be a causal relationship. There are many references in the literature about this problem in patients in whom these drugs have been used to treat osteoporosis, but few reports in patients who have received this therapy for the management of osteogenesis imperfecta. The Authors describe a case of a young male patient with osteogenesis imperfecta with a number of historical fractures, and who received treatment with these drugs, initially parenterally and subsequently orally, presenting as a complication of the treatment, an atypical diaphyseal femoral fracture. The characteristics of the fracture are consistent with the updated diagnostic criteria of the American Society for Bone and Mineral Research. The clinical case, its treatment, both surgically and metabolically with teriparatide, and its development over a year, are analysed. The case is notable for, on the one hand, the significance of the presence of this type of fracture in a young patient with this disease, and on the other, because of the administration of teriparatide outside its established clinical indications, with twin objectives: to improve the bone structure of the patient's underlying disease, and to counteract the harmful effects which bisphosphonates may have on this bone.

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Osteogénesis imperfecta: tratamiento y resultado de una serie de casos

Cited by 7 publications

References 23 publications

Effects of a telescopic intramedullary rod for treating patients with osteogenesis imperfecta of the femur

Effects of a telescopic intramedullary rod for treating patients with osteogenesis imperfecta of the femur

Caso Clínico: Gorlin Goltz asociado a Osteogénesis Imperfecta

An atypical fracture in male patient with osteogenesis imperfecta

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