Rosario Ramos-Mejía, Francisco Monterroza-Quintana, Claudio Primomo, Rodolfo Goyeneche, Virginia Fano
{"title":"在儿科医院评估的成骨不全患者队列中的髋臼突出。","authors":"Rosario Ramos-Mejía, Francisco Monterroza-Quintana, Claudio Primomo, Rodolfo Goyeneche, Virginia Fano","doi":"10.1055/s-0041-1732476","DOIUrl":null,"url":null,"abstract":"<p><p>Acetabular protrusion (AP) is present in 33 to 55% of patients with osteogenesis imperfecta (OI). Even though the finding is relatively common, it is poorly described in pediatric patients. The objective of this study was to describe the incidence and associations of AP in pediatric OI patients. We retrospectively and cross-sectionally evaluated clinical histories and radiographic findings of OI patients aged 2 to 19.5 years, recording sex, age, severity, anthropometric measurements, ambulation status, femoral fractures history, and occurrence of orthopaedic surgeries and nephropathy. AP was considered present when the center-edge (CE) angle was more than 35 degrees and the acetabular line crossed the Kohler's line by more than 1 and 3 mm in boys and girls, respectively, and 3 and 6 mm in adult males and females, respectively. The association with risk factors and complications was analyzed through univariate and multivariate logistic regression. A total of 71 children were evaluated. The median age was 8.6 years, and 54.9% of them had moderate to severe forms of OI. In 71.8% of the children, an abnormal CE angle was found, being frequent in mild, moderate, and severe cases. AP was present in 22.5% of all patients and in 41% of children with moderate to severe OI, and was significantly associated with older ages ( <i>p</i> = 0.0062) and nonwalking status ( <i>p</i> = 0.0093). We found a high prevalence of AP in children with moderate to severe forms of OI, which was present even at younger ages. In addition, we found a significant increase in the number of children with abnormal CE angles even in those with mild forms of OI. The presence of AP was associated with the severity of the OI and age, and in a negative association with the ambulatory status.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"12 1","pages":"48-52"},"PeriodicalIF":0.4000,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9848761/pdf/10-1055-s-0041-1732476.pdf","citationCount":"0","resultStr":"{\"title\":\"Acetabular Protrusion in a Cohort of Patients with Osteogenesis Imperfecta Evaluated in a Pediatric Hospital.\",\"authors\":\"Rosario Ramos-Mejía, Francisco Monterroza-Quintana, Claudio Primomo, Rodolfo Goyeneche, Virginia Fano\",\"doi\":\"10.1055/s-0041-1732476\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Acetabular protrusion (AP) is present in 33 to 55% of patients with osteogenesis imperfecta (OI). Even though the finding is relatively common, it is poorly described in pediatric patients. The objective of this study was to describe the incidence and associations of AP in pediatric OI patients. We retrospectively and cross-sectionally evaluated clinical histories and radiographic findings of OI patients aged 2 to 19.5 years, recording sex, age, severity, anthropometric measurements, ambulation status, femoral fractures history, and occurrence of orthopaedic surgeries and nephropathy. AP was considered present when the center-edge (CE) angle was more than 35 degrees and the acetabular line crossed the Kohler's line by more than 1 and 3 mm in boys and girls, respectively, and 3 and 6 mm in adult males and females, respectively. The association with risk factors and complications was analyzed through univariate and multivariate logistic regression. A total of 71 children were evaluated. The median age was 8.6 years, and 54.9% of them had moderate to severe forms of OI. In 71.8% of the children, an abnormal CE angle was found, being frequent in mild, moderate, and severe cases. AP was present in 22.5% of all patients and in 41% of children with moderate to severe OI, and was significantly associated with older ages ( <i>p</i> = 0.0062) and nonwalking status ( <i>p</i> = 0.0093). We found a high prevalence of AP in children with moderate to severe forms of OI, which was present even at younger ages. In addition, we found a significant increase in the number of children with abnormal CE angles even in those with mild forms of OI. The presence of AP was associated with the severity of the OI and age, and in a negative association with the ambulatory status.</p>\",\"PeriodicalId\":16695,\"journal\":{\"name\":\"Journal of pediatric genetics\",\"volume\":\"12 1\",\"pages\":\"48-52\"},\"PeriodicalIF\":0.4000,\"publicationDate\":\"2023-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9848761/pdf/10-1055-s-0041-1732476.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of pediatric genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0041-1732476\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0041-1732476","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
Acetabular Protrusion in a Cohort of Patients with Osteogenesis Imperfecta Evaluated in a Pediatric Hospital.
Acetabular protrusion (AP) is present in 33 to 55% of patients with osteogenesis imperfecta (OI). Even though the finding is relatively common, it is poorly described in pediatric patients. The objective of this study was to describe the incidence and associations of AP in pediatric OI patients. We retrospectively and cross-sectionally evaluated clinical histories and radiographic findings of OI patients aged 2 to 19.5 years, recording sex, age, severity, anthropometric measurements, ambulation status, femoral fractures history, and occurrence of orthopaedic surgeries and nephropathy. AP was considered present when the center-edge (CE) angle was more than 35 degrees and the acetabular line crossed the Kohler's line by more than 1 and 3 mm in boys and girls, respectively, and 3 and 6 mm in adult males and females, respectively. The association with risk factors and complications was analyzed through univariate and multivariate logistic regression. A total of 71 children were evaluated. The median age was 8.6 years, and 54.9% of them had moderate to severe forms of OI. In 71.8% of the children, an abnormal CE angle was found, being frequent in mild, moderate, and severe cases. AP was present in 22.5% of all patients and in 41% of children with moderate to severe OI, and was significantly associated with older ages ( p = 0.0062) and nonwalking status ( p = 0.0093). We found a high prevalence of AP in children with moderate to severe forms of OI, which was present even at younger ages. In addition, we found a significant increase in the number of children with abnormal CE angles even in those with mild forms of OI. The presence of AP was associated with the severity of the OI and age, and in a negative association with the ambulatory status.
期刊介绍:
The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.