SciELO - Scientific Electronic Library Online

 
vol.35 número2TUBERCULOSE EM PACIENTES PEDIÁTRICOS: COMO TEM SIDO FEITO O DIAGNÓSTICO?CAMPANHA E CARTEIRA DE RADIOPROTEÇÃO: ESTRATÉGIAS EDUCATIVAS QUE REDUZEM A EXPOSIÇÃO EXCESSIVA DE CRIANÇAS A EXAMES RADIOLÓGICOS índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Journal

Artigo

Indicadores

Links relacionados

Compartilhar


Revista Paulista de Pediatria

versão impressa ISSN 0103-0582versão On-line ISSN 1984-0462

Resumo

BRIZOLA, Evelise et al. CLINICAL FEATURES AND PATTERN OF FRACTURES AT THE TIME OF DIAGNOSIS OF OSTEOGENESIS IMPERFECTA IN CHILDREN. Rev. paul. pediatr. [online]. 2017, vol.35, n.2, pp.171-177. ISSN 0103-0582.  http://dx.doi.org/10.1590/1984-0462/;2017;35;2;00001.

Objective:

To characterize the fracture pattern and the clinical history at the time of diagnosis of osteogenesis imperfecta.

Methods:

In this retrospective study, all patients with osteogenesis imperfecta, of both genders, aged 0-18 years, who were treated between 2002 and 2014 were included. Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, positive familial history of osteogenesis imperfecta, and the site of the fractures. In addition, radiographic findings at the time of the diagnosis were reviewed.

Results:

Seventy-six patients (42 females) were included in the study. Individuals’ age ranged from 0 to 114 months, with a median (interquartile range) age of 38 (6-96) months. Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them. The number of fractures at diagnosis ranged from 0 to 17, with a median of 3 (2-8) fractures. Forty (57%) patients had fractures of the upper and lower extremities, and 9 patients also had spinal fractures. The diagnosis was performed at birth in 85.7% of patients with type 3, and 39.3% of those with type 4/5 of the disorder.

Conclusions:

Osteogenesis imperfecta is a genetic disorder with distinctive clinical features such as bone fragility, recurrent fractures, blue sclerae, and dentinogenesis imperfecta. It is important to know how to identify these characteristics in order to facilitate the diagnosis, optimize the treatment, and differentiate osteogenesis imperfecta from other disorders that also can lead to fractures.

Palavras-chave : osteogenesis imperfecta; bone fracture; clinical features; clinical diagnosis; differential diagnosis.

        · resumo em Português     · texto em Português | Inglês     · Português ( pdf epdf ) | Inglês ( pdf epdf )