印度唐氏综合症儿童的临床概况。

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2023-03-01 DOI:10.1055/s-0041-1732475

Inusha Panigrahi, Yogita Bhatt, Shivani Malik, Parminder Kaur, Anupriya Kaur

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摘要

本回顾性研究对来自异种人种的208例唐氏综合征(DS)患者进行了回顾性研究。该研究的目的是寻找儿童和青少年退行性椎体滑移的表型变异性和相关并发症。接受评估的退行性椎体滑移患者的平均年龄为34个月。208例患者中有128例(62%)出现心脏异常。在心脏疾病中，房间隔缺损占30%。其他观察到的并发症是甲状腺功能减退和发育迟缓(约31%)，新生儿胆汁淤积(14%)。同时，我们报告2例Moya-Moya病和1例寰枢脱位。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Clinical Profile of Indian Children with Down Syndrome.

This retrospective study was performed on 208 patients with Down syndrome (DS) from heterogeneous ethnic population and admitted under Genetics Metabolic Unit. The aim of the study was to look for phenotypic variability and associated complications in children and adolescents with DS. The average age of the evaluated DS patients was 34 months. Cardiac anomalies were found in 128 (62%) of the 208 cases. Among the cardiac disorders, atrial septal defects accounted for 30% of cases. Other complications observed were hypothyroidism and developmental delay in around 31% cases and neonatal cholestasis in 14% cases. Also, we report two cases with Moya-Moya disease and one case with atlanto-axial dislocation.

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Journal of pediatric genetics PEDIATRICS-

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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.