Larsen综合征(Larsen syndrome, LRS),是一种罕见的遗传病,其特征是先天性大关节脱位(髋关节、膝关节、肘关节和肩关节等)和特征性颅面部畸形(中面部扁平、前额突出、鼻梁凹陷、颧骨扁平、眼距过宽等),多数患者因听小骨畸形伴有传导性听力受损。 该疾病由Larsen等人于19...
Larsen综合征是英文Larsen syndrome的中文翻译。这一疾病又叫做;颚裂-先天性脱位综合症,颚裂-先天性脱位症候群。该病是一种基因病、遗传病。佳学基因通过基因解码找到了导致这一疾病发生的基因。可以通过基因检测阻止Larsen综合征在后代或者二胎中的出现。根据《人的基因序列变化与人体疾病表征》,该病属于骨骼-肌肉-...
拉森综合征基因检测导读: 拉森综合征(Larsen Syndrome)是一种罕见的遗传性结缔组织疾病,主要特征包括关节脱位、面部畸形、脊柱异常以及其他骨骼畸形。根据不同的基因突变和临床表现,拉森综合征可以分为几种亚型,包括经典型和类似拉森综合征(Larsen-like Syndrome)。 拉森综合征的遗传背景 经典拉森综合征: 基因:...
Larsen syndrome is characterized by multiple congenital joint dislocations, craniofacial abnormalities, and short stature. The skeletal features include dislocations of the hip, knee, elbow joints, and wrists as well as equinovarus or equinovalgus foot deformities. The patella is often dislocated ...
Larsen综合征(Larsen syndrome, LRS),又称为腭裂-先天性多发性脱位综合征,是一种主要表现为先天性多发性关节脱位、手足畸形、特征性颅颌面畸形的骨软骨发育不良综合征。该病最初于1950由Larsen详细报道,在国内亦有报道。LRS最主要的表现为髋、膝及肘关节的脱位,并伴有马蹄内翻足或外翻足的畸形。此外患者常出现颅颌...
将“Larsen syndrome"翻译成凯尔特文 syndrom Larsen是将“Larsen syndrome"翻译成 凯尔特文。 译文示例:Larsen syndrome ↔ syndrom Larsen Larsen syndrome proper A congenital disorder characterised by dislocation of the knees, hips and elbows, flattened facial appearance, prominent forehead, and depressed...
Larsen综合征 释义 Larsen syndrome [医]拉尔森(氏)综合征:腭裂-先天性多发性脱位症候群;
Larsen syndrome is an inherited condition characterized by multiple joint dislocations and typical facial features including depressed nasal bridge with hypertelorism and a prominent forehead. There are only several cases reported since its first report by Larsen in 1950#146;s. The aim of this ...
(2021影响因子35.855,在jcr“心脏和心血管系统”学科类别的143种期刊中排名第3位)发表文章“hybrid repair of a giant left subclavian artery aneurysm and arch coarctation in a patient with larsen syndrome” (长按下方二维码即可阅读全...
利用Larsen样综合征B3gat3型(Larsen-Like Syndrome B3gat3 Type)基因检测提升精准医学诊断的可行性 Larsen样综合征B3gat3型是一种罕见的遗传性疾病,患者常常表现为关节畸形、面部特征异常和智力发育迟缓等症状。目前,对于这种疾病的诊断主要依靠临床表现和基因检测。利用Larsen样综合征B3gat3型基因检测可以提升精准医学诊断...