Ehlers Danlos Syndrome ? A Case Report

Pragati Kaurani; Nikhil Marwah; Mayank Kaurani; Narendra Padiyar

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Ehlers Danlos Syndrome ? A Case Report

机译：埃勒斯·丹洛斯综合症？个案报告

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Ehlers Danlos syndrome (EDS) is a hereditary collagen disorder which primarily manifests in the skin and joints. Clinically, it is characterized by hyperelasticity of skin and joint hypermobility. This article has described a rare condition seen in a 10-year-old boy who was diagnosed with EDS, based on the clinical, radiographic and histological findings.

机译：Ehlers Danlos综合征（EDS）是一种遗传性胶原疾病，主要表现在皮肤和关节中。在临床上，其特征在于皮肤的超弹性和关节活动过度。本文根据临床，影像学和组织学检查结果，描述了在诊断为EDS的10岁男孩中发现的罕见病。

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《Journal of Clinical and Diagnostic Research》 |2014年第3期|共3页
作者
Pragati Kaurani; Nikhil Marwah; Mayank Kaurani; Narendra Padiyar;
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中图分类临床医学;
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专利

1. Hypermobile Ehlers-Danlos Syndrome (a.k.a. Ehlers-Danlos Syndrome Type III and Ehlers-Danlos Syndrome Hypermobility Type): Clinical Description and Natural History [J] . Tinkle Brad, Castori Marco, Berglund Britta, American journal of medical genetics, Part C. Seminars in medical genetics . 2017,第1期

机译：高致密ehlers-danlos综合征（A.K.A.Ehlers-Danlos综合征III和Ehlers-Danlos综合征高产类型）：临床描述和自然历史
2. Surgical recommendations in Ehlers-Danlos syndrome(s) need patient classification: the example of Ehlers-Danlos syndrome hypermobility type (a.k.a. joint hypermobility syndrome)---reply. [J] . Jakob Burcharth, Jacob Rosenberg Digestive surgery . 2012,第6期

机译：Ehlers-Danlos综合征的外科手术建议需要患者分类：Ehlers-Danlos综合征活动过度类型（又名关节活动过度综合征）的示例-答复。
3. BRITTLE CORNEA SYNDROME: A CASE REPORT AND COMPARISON WITH EHLERS DANLOS SYNDROME REPLY [J] . Ramappa Muralidhar, Wilson M. Edward, Trivedi Rupal H., Journal of AAPOS: The official publication of the American Association for Pediatric Ophthalmology and Strabismus . 2015,第1期

机译：脆性角膜综合症：病例报告和与埃勒斯·丹洛斯综合症的比较
4. Alterations in collagen structure in hypermobility and Ehlers-Danlos syndromes detected by Raman spectroscopy in vivo [C] . Carina Koch Johansson, Monika Gniadecka, Susanne Ullman, Conference on Optical Biopsy and Tissue Optics 5-6 July 2000 Amsterdam, the Netherlands . 2000

机译：拉曼光谱法在体内检测到的高运动性和Ehlers-Danlos综合征的胶原蛋白结构变化
5. The Use of Propranolol for Non-specific Beta-adrenergic Blockade to Target Gastrointestinal Manifestations and Improve Quality of Life in Hypermobile Ehlers-Danlos Syndrome Patients with Autonomic Dysfunction [D] . D'Amato, Rachel. 2020

机译：使用普萘洛尔用于非特异性β-肾上腺素能细胞，以靶向胃肠道表现，提高高毛细管ehlers-danlos综合征患者的胃肠道表现和改善自主功能障碍患者的生活质量
6. Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Type IV [O] . Ulrike Schwarze, Wouter I. Schievink, Elizabeth Petty, 2001

机译：III型胶原蛋白的一个COL3A1等位基因的单倍剂量不足导致其表型类似于Ehlers-Danlos综合征Ehlers-Danlos综合征IV型的血管形式。
7. Cervicoplastia na flacidez cutânea por síndrome de Ehlers-Danlos: relato de caso Cervicoplasty in cutaneous laxity from Ehlers-Danlos syndrome: a case report [O] . Márcio Rocha Crisóstomo, Victor José Timbó Gondim, André Nunes Benevides, 2010

机译：Ehlers-Danlos综合征在皮肤松弛中进行宫颈成形术：病例报告

Ehlers Danlos Syndrome ? A Case Report

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