■在资源有限的设置中,不常见表型的患者通常面临长时间的诊断过程和潜在的误诊.疣瘤,心脏缺陷,锁骨闭锁,增长和发展受到限制,生殖器和耳朵异常综合征(CHARGE)综合征,影响心脏等各种身体部位的先天性疾病,耳朵,眼睛,和生殖器,就是这个挑战的例证。
我们介绍了一名来自厄瓜多尔的21岁男性患者,他表现出性腺功能减退,面部畸形,发育迟缓。由于遗传专家的匮乏和厄瓜多尔基因检测的机会有限,该患者被误诊为Noonan综合征。然而,在八年后,最终获得了CHARGE综合征的正确诊断,通过基因测序促进,鉴定了染色体结构域解旋酶DNA结合蛋白7基因中的新突变。
此案例突出了精心评估患者症状的关键作用,并强调了加强医生和研究人员之间合作的必要性。这些努力对于促进发展中国家个人获得医疗保健和公平至关重要。
UNASSIGNED: In resource-limited settings, patients with uncommon phenotypes often face prolonged diagnostic journeys and potential misdiagnoses. Coloboma, heart defects, atresia choanae, restricted growth and development, genital and ear abnormalities syndrome (CHARGE) syndrome, a congenital condition affecting various body parts such as the heart, ears, eyes, and genitals, exemplifies this challenge.
UNASSIGNED: We present the case of a 21-year-old male patient from Ecuador who exhibited hypogonadism, facial deformities, and stunted growth. Due to the scarcity of genetic specialists and limited access to genetic testing in Ecuador, the patient received a misdiagnosis of Noonan syndrome. However, a correct diagnosis of CHARGE syndrome was ultimately reached after eight years, facilitated by genetic sequencing that identified a novel mutation in the Chromodomain helicase DNA binding protein 7 gene.
UNASSIGNED: This case highlights the critical role of meticulously assessing patients\' symptoms and emphasizes the necessity for enhanced collaboration among physicians and researchers. Such efforts are pivotal in advancing healthcare access and equity for individuals in developing nations.