ACHONDROPLASIA

作品数：8被引量：15H指数：2
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相关领域：医药卫生更多>>
相关作者：唐海华邹丽颖康庆林阮炎王欣更多>>
相关机构：白城市医院第三军医大学大坪医院首都医科大学附属北京妇产医院上海交通大学附属第六人民医院更多>>
相关期刊：《World Journal of Clinical Cases》《Chinese Medical Journal》《World Journal of Pediatrics》《Open Journal of Orthopedics》更多>>
相关基金：国家自然科学基金国家高技术研究发展计划更多>>
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Anesthetic dilemmas in an achondroplastic patient undergoing elective cesarean section
《Journal of Biomedical Research》2024年第5期512-515,共4页Aaron Brown Hong Liu Cristina Chandler 
supported in part by the University of California Davis Health Department of Anesthesiology and Pain Medicine and an NIH grant(No.UL1 TR000002)from the University of California Davis Health.
Achondroplasia is a genetic condition characterized by skeletal dysplasia that results in characteristic craniofacial and spinal abnormalities.It is the most common form of short-limbed skeletal dysplasia.A morbidly o...
关键词：ACHONDROPLASIA skeletal dysplasia combined spinal-epidural anesthesia cesarean delivery 
Anterior Cruciate Ligament Reconstruction Using Hamstring Graft in a Patient with Achondroplasia: A Case Report
《Open Journal of Orthopedics》2022年第9期362-366,共5页Muhammad Azfar Khanzada Qamar Jaleel Akhtar 
Background: Achondroplasia is a rare autosomal dominant disorder resulting in skeletal dysplasia. Any injury to the anterior cruciate ligament among people already suffering from achondroplasia results in devastating ...
关键词：Arthroscopic Reconstruction Anterior Cruciate Ligament Quadrupled Hamstring Graft Double Suspension Technique 
Theobroma cacao improves bone growth by modulating defective ciliogenesis in a mouse model of achondroplasia被引量：1
《Bone Research》2022年第1期137-149,共13页Ludovic Martin Nabil Kaci Catherine Benoist-Lasselin Marine Mondoloni Suzanne Decaudaveine Valentin Estibals Maxence Cornille Léa Loisay Justine Flipo Benoît Demuynck Maria de la Luz Cádiz-Gurrea Florent Barbault Salvador Fernández-Arroyo Laurent Schibler Antonio Segura-Carretero Emilie Dambroise Laurence Legeai-Mallet 
This program received a state subsidy managed by the National Research Agency under the “Investments for the Future” Program bearing the reference ANR-10-IAHU-01;Some of the work presented here was funded by the European Community’s Seventh Framework Program under grant agreement 602300 (the SYBIL program (https://www.sybil-fp7.eu/) is funded by the MRC (MC_UU_000007/9))
A gain-of-function mutation in the fibroblast growth factor receptor 3 gene(FGFR3)results in achondroplasia(ACH),the most frequent form of dwarfism.Constitutive activation of FGFR3 impairs bone formation and elongatio...
关键词：inhibited arrangement eliminated 
Sleep disordered breathing in children with achondroplasia被引量：1
《World Journal of Pediatrics》2017年第1期8-14,共7页Marco Zaffanello Gaetano Cantalupo Giorgio Piacentini Emma Gasperi Luana Nosetti Paolo Cavarzere Diego Alberto Ramaroli Aliza Mittal Franco Antoniazzi 
Background:Children with achondrOplasia often have breathing problems,especially during sleep.The most important treatments are adenotonsillectomy(for treating upper obstruction)and/or neurosurgery(for resolving cervi...
关键词：ACHONDROPLASIA CHILDREN POLYSOMNOGRAPHY sleep DISORDERED breathing upper respiratory TRACT OBSTRUCTION 
Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias被引量：1
《World Journal of Radiology》2014年第10期808-825,共18页Ananya Panda Shivanand Gamanagatti Manisha Jana Arun Kumar Gupta 
Skeletal dysplasias are not uncommon entities and a radiologist is likely to encounter a suspected case of dysplasia in his practice. The correct and early diagnosis of dysplasia is important for management of complic...
关键词：SKELETAL DYSPLASIA Short limb DWARFISM Rhizomelia Radiograph SKELETAL survey Review Spondylopepiphyseal DYSPLASIA Multiple epiphyseal DYSPLASIA ACHONDROPLASIA Algorithm APPROACH 
Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction被引量：1
《World Journal of Clinical Cases》2014年第11期711-716,共6页Al-Wala Awad Kyrieckos A Aleck Ratan D Bhardwaj 
We report the first case of a neonate with concurrent Chiari II malformation and achondroplasia. Although rare, both these conditions contribute to several deleterious anatomical changes at the cervicomedullary juncti...
关键词：ACHONDROPLASIA Chiari II malformation HYDROCEPHALUS Shunt failure Cervicomedullary junction Cerebral spinal fluid diversion 
Ser217Cys mutation in the Ig Ⅱ domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia被引量：9
《Chinese Medical Journal》2007年第11期1017-1019,共3页ZHANG Shi-rong ZHOU Xiao-qing REN Xiang WANG Tian-tian YUAN Ming-xiong WANG Qing LIU Jing-yu LIU Mu-gen 
the funds of the National HighTechnology Research and Development Program of China (863 Program, No. 2002BA711A07);the 10th Five Years Key Programs for Science and Technology Development of China (No. 2004BA720A02); the National Natural Science Foundation of China (No. 30470982)
Achondroplasia （ACH） is the most common form of skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, relative macrocephaly and other skeletal anomalies resulting from a defect in th...
关键词：fibroblast growth factor receptor 3 ACHONDROPLASIA mutation  linkage analysis 
软骨发育不全(achondroplasia)(附四家族10例分析)被引量：2
《实用放射学杂志》1988年第1期7-9,58,共4页关济 张宇范 唐海华 李金铭 
软骨发育不全(achondroplasia)系一种四肢短小,而躯干近于正常的、不成比例的矮小畸形。有遗传性和家族性,但也可散发。
关键词：软骨发育不全 正常人 四肢长骨 ACHONDROPLASIA 椎弓 腰椎 骨翼 骨盆狭小 小腿 家族 家系 椎体 椎间隙 
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