Ellis-Van Creveld Syndrome

Cesur Ya?ar; Yuca Sevil Ar?; üner Abdurahman; Yuca K?ksal; Arslan Derya

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Ellis-Van Creveld Syndrome

机译：埃利斯·范·克雷维尔德综合征

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Ellis-van Creveld syndrome (EVCS) or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. The patient presented with short stature, polydactyly, triangular face and dental dismorphism was found appropriately as radiographic with ectodermal dysplasia. In addition to the presence of single atrium, mitral, tricuspid and pulmonary valve insufficiency and pulmonary hypertension wererevealed by echocardiography. Her history involved a sister who was dead in 3-month-ages.

机译：Ellis-van Creveld综合征（EVCS）或软骨外胚层发育不良是一种罕见的常染色体隐性遗传疾病，其特征是临床发现范围广泛。古典EVC综合征包括软骨病，多发性，外胚层发育不良和心脏缺陷的临床表现的四分之一。表现为身材矮小，多指，面部呈三角形和牙齿畸形的患者，经适当影像学检查发现具有外胚层发育不良。除存在单个心房外，还通过超声心动图检查揭示了二尖瓣，三尖瓣和肺动脉瓣关闭不全以及肺动脉高压。她的病史涉及一个死于三个月大的妹妹。

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《European Journal of General Medicine》 |2008年第3期|共4页
作者
Cesur Ya?ar; Yuca Sevil Ar?; üner Abdurahman; Yuca K?ksal; Arslan Derya;
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1. Ellis-van Creveld syndrome with syndactyly, hydrocephalus and cleft palate: A normal variant of Ellis-van Creveld or a new syndrome? [J] . Zulqarnain Masoodi, Lalit Mohan Bariar Ansarul Haq Journal of pediatric neurology : . 2013,第4期

机译：伴有脑积水和hydro裂的Ellis-van Creveld综合征：Ellis-van Creveld的正常变异还是新的综合征？
2. A short-rib polydactyly syndrome: Ellis-van Creveld syndrome [J] . Kiraz Aslihan, Erdogan Murat, Balta Burhan, Journal of Biotechnology . 2014,第Null期

机译：短肋多指综合征：Ellis-van Creveld综合征
3. Atrioventricular canal defect as a sign of laterality defect in ellis-van creveld and polydactyly syndromes with ciliary and hedgehog signaling dysfunction [J] . DigilioM.C., DallapiccolaB., MarinoB. Pediatric cardiology . 2012,第5期

机译：房室管缺损是伴有睫毛和刺猬信号功能障碍的埃利斯-范·克里夫德和多指综合征中侧向缺损的征兆
4. A Fuzzy Model of Diagnosis of Eight Syndromes and Internal Organs' Syndromes in Traditional Vietnamese Medicine [C] . Nguyen Hoang Phuong International Conference on Frontiers of Intelligent Computing : Theory and Applications . 2020

机译：传统越南医学诊断八综合征诊断模糊模型及内部器官综合征
5. A molecular genetic characterization of Ellis-van Creveld (EvC) syndrome. [D] . Galdzicka, Marzena. 2003

机译：Ellis-van Creveld（EvC）综合征的分子遗传学特征。
6. Ellis-van creveld syndrome Jeune syndrome and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? [O] . L A Brueton, M J Dillon, R M Winter 1990

机译：Ellis-van creveld综合征Jeune综合征和肾-肝-胰腺发育不良：单独的实体还是疾病谱？
7. Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? [O] . Brueton, L A, Dillon, M J, Winter, R M 1990

机译：Ellis-van creveld综合征，Jeune综合征和肾-肝-胰腺发育不良：单独的实体还是疾病谱？

Ellis-Van Creveld Syndrome

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