在儿科医院评估的成骨不全患者队列中的髋臼突出。

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2023-03-01 DOI:10.1055/s-0041-1732476
Rosario Ramos-Mejía, Francisco Monterroza-Quintana, Claudio Primomo, Rodolfo Goyeneche, Virginia Fano
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引用次数: 0

摘要

33 - 55%的成骨不全(OI)患者存在髋臼突出(AP)。尽管这一发现相对普遍,但在儿科患者中却鲜有描述。本研究的目的是描述AP在儿童成骨不全患者中的发病率和相关性。我们回顾性和横断面评估了2至19.5岁的成骨不全患者的临床病史和影像学表现,记录了性别、年龄、严重程度、人体测量值、活动状况、股骨骨折史、骨科手术和肾病的发生情况。当中心边缘(CE)角大于35度,男女髋臼线与科勒线相交分别大于1和3mm,成年男女髋臼线相交分别大于3和6mm时,认为存在AP。通过单因素和多因素logistic回归分析与危险因素和并发症的关系。共有71名儿童接受了评估。中位年龄为8.6岁,54.9%的患者患有中度至重度成骨不全。在71.8%的患儿中发现CE角异常,常见于轻、中、重度病例。22.5%的患者和41%的中度至重度成骨不全症儿童存在AP, AP与年龄(p = 0.0062)和不行走状态(p = 0.0093)显著相关。我们发现AP在患有中度至重度成骨不全的儿童中患病率很高,甚至在更小的年龄也存在。此外,我们发现,即使是轻度成骨不全的儿童,其CE角异常的数量也显著增加。AP的存在与成骨不全的严重程度和年龄相关,与活动状态呈负相关。
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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.

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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.
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