遗传综合征通常显示面部特征,为诊断提供线索。然而,记住这些特征对于临床医生来说是一项具有挑战性的任务.在过去的几年里,通过分析在受影响个体的一个或多个面部图像中检测到的特征,应用程序Face2Gene被证明是对遗传性疾病诊断的有用支持。我们的目的是评估该应用程序在Silver-Russell综合征(SRS)和Prader-Willi综合征(PWS)患者中的表现。我们招募了23例临床或遗传诊断为SRS的儿科患者和29例遗传证实为PWS的儿科患者。获得每位患者的一张额叶照片。分析了前1名、前5名和前10名的敏感性。研究了与特异性基因诊断的相关性。如果可用,比较同一患者不同年龄的照片。在SRS组中,Face2Gene显示前1、前5和前10的敏感度为39%,65%,91%,分别。在41%的基因确诊的SRS患者中,SRS是第一个被提出的综合征,在临床诊断的患者中,在33%的病例中,SRS被认为是前1名(p=0.74)。Face2Gene在患有SRS的年轻患者中表现更好:在所有患者中,可以在年龄小于招募年龄的情况下拍摄照片,SRS被建议为前1,尽管概率程度不同。在PWS组中,前1名、前5名和前10名的敏感度为76%,97%,100%,分别。在83%的被遗传诊断为染色体15q11-13的父系缺失的患者中,以及60%的染色体15的母体单亲二体性患者中,PWS被认为是前1名(p=0.17)。在整个调查的年龄范围(1-15岁)中,表现是一致的。
结论:除了全面的病史和详细的临床检查,Face2Gene应用程序可以成为一个有用的工具,以支持临床医生识别可能诊断为SRS或PWS的儿童.
背景:•几种遗传综合征表现出典型的面部特征,可能为诊断提供线索。•记忆所有综合征面部特征对于临床医生来说是一项具有挑战性的任务。
背景:•Face2Gene可能是儿科医生诊断遗传综合征的有用支持。•Face2Gene应用程序可以成为集成SRS和PWS患者诊断路径的有用工具。
Genetic syndromes often show facial features that provide clues for the diagnosis. However, memorizing these features is a challenging task for clinicians. In the last years, the app Face2Gene proved to be a helpful support for the diagnosis of genetic diseases by analyzing features detected in one or more facial images of affected individuals. Our aim was to evaluate the performance of the app in patients with Silver-Russell syndrome (SRS) and Prader-Willi syndrome (PWS). We enrolled 23 pediatric patients with clinically or genetically diagnosed SRS and 29 pediatric patients with genetically confirmed PWS. One frontal photo of each patient was acquired. Top 1, top 5, and top 10 sensitivities were analyzed. Correlation with the specific genetic diagnosis was investigated. When available, photos of the same patient at different ages were compared. In the SRS group, Face2Gene showed top 1, top 5, and top 10 sensitivities of 39%, 65%, and 91%, respectively. In 41% of patients with genetically confirmed SRS, SRS was the first syndrome suggested, while in clinically diagnosed patients, SRS was suggested as top 1 in 33% of cases (p = 0.74). Face2Gene performed better in younger patients with SRS: in all patients in whom a photo taken at a younger age than the age of enrollment was available, SRS was suggested as top 1, albeit with variable degree of probability. In the PWS group, the top 1, top 5, and top 10 sensitivities were 76%, 97%, and 100%, respectively. PWS was suggested as top 1 in 83% of patients genetically diagnosed with paternal deletion of chromosome 15q11-13 and in 60% of patients presenting with maternal uniparental disomy of chromosome 15 (p = 0.17). The performance was uniform throughout the investigated age range (1-15 years).
CONCLUSIONS: In addition to a thorough medical history and detailed clinical examination, the Face2Gene app can be a useful tool to support clinicians in identifying children with a potential diagnosis of SRS or PWS.
BACKGROUND: • Several genetic syndromes present typical facial features that may provide clues for the diagnosis. • Memorizing all syndromic facial characteristics is a challenging task for clinicians.
BACKGROUND: • Face2Gene may represent a useful support for pediatricians for the diagnosis of genetic syndromes. • Face2Gene app can be a useful tool to integrate in the diagnostic path of patients with SRS and PWS.