论文部分内容阅读
目的调查分析南疆首例维吾尔族Bardet-Biedl综合征患儿的临床特点,总结诊治经验。方法对患儿进行病史采集,体格检查,实验室检查,影像学检查等,请儿科,骨外科,麻醉科,眼科,口腔科,放射科等多学科联合会诊以协助诊断。结果多科会诊后确定患儿存在支气管肺炎,肥胖,智力低下,12,22,32,42切牙缺失,DⅠ乳牙滞留,双手6指畸形,双足6趾畸形,阴茎短小,夜盲,视网膜色素变性,高度近视等问题。结论患儿确诊为Bardet-Biedl综合征,检索中外文文献,南疆地区未见本病的报道。我们首次在南疆地区报道了罕见的Bardet-Biedl综合征患儿。目前该病尚无根治方法,主要给以对症治疗,提高其生活质量。
Objective To investigate and analyze the clinical features of the first case of Uygur Bardet-Biedl syndrome in southern Xinjiang and summarize the experience of diagnosis and treatment. Methods The history of children with acquisition, physical examination, laboratory tests, imaging studies, please pediatrics, orthopedics, anesthesiology, ophthalmology, dentistry, radiology and other multidisciplinary consultation to help diagnose. Results After the multidisciplinary consultation, children with bronchopneumonia, obesity, mental retardation, 12,22,32,42 incisors missing, DⅠ deciduous teeth, 6 fingers deformity, 6 feet deformity, short penis, night blindness, retinal pigment Degeneration, high myopia and other issues. Conclusion Children diagnosed as Bardet-Biedl syndrome, Chinese and foreign literature retrieval, no reports of the disease in southern Xinjiang. We first reported a rare case of Bardet-Biedl syndrome in southern Xinjiang. At present, there is no cure for the disease and symptomatic treatment is mainly given to improve the quality of life.