Escobar syndrome belongs to a group of disorders characterized by joint contractures and variable degrees of webbing (multiple pterygia) mainly affecting the neck and large joints. The multiple pterygium syndromes are phenotypically and genetically heterogeneous. Clinically they have been separated into ...
ESCOBAR Syndrome is the milder form of an otherwise fatal congenital condition correctly known as Multiple pterygium syndrome. As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend. LLeeoonniiee ssaaddddlleess uupp ffoor...
We report a two years old Egyptian girl, the first birth of consanguineous marriage with clinical findings consistent with the diagnosis of the autosomal recessive multiple pterygium syndrome (Escobar) (growth retardation, craniofacial dysmorphism, multiple pterygia, kyphoscoliosis, multiple joint ...
Multiple pterygium syndrome (MPS or Escobar syndrome) is a rare, generally autosomal recessive disorder characterized by multiple congenital joint contractures and multiple skin webs. An 11.5-year-old girl with a working diagnosis of Turner syndrome (TS) was referred for her phenotypic features and ...
Genetic testing is required to diagnose the Escobar variant of multiple pterygium syndrome, including a thorough history and physical examination. Multiple problems and complications are associated with MPS needing different interprofessional teams and specialists. The difficulties include immobility, short stat...
Multiple Pterygium Syndrome:A Case of the Multiple Pterygium Syndrome The multiple pterygium syndrome is a rare condition which consists of pterygia of neck, antecubital, digital, popliteal, and intercrural areas, growth reteardation, peculiar facies, foot deformities, multiple joint contractures, vert...
Anesthetic approach to a patient with multiple pterygium (Escobar) syndrome 来自 掌桥科研 喜欢 0 阅读量: 17 作者:N Sertoz,H Gunay,S Karaman 摘要: No abstract is available for this article.关键词: Femur Humans Pterygium Abnormalities, Multiple Skin Abnormalities Malignant Hyperthermia Anesthesia, ...
Twenty-one patients with Noonan syndrome are presented. Telecanthus low-set ears, epicanthus and facial asymmetry were the commoner facial stigmata. Pteryg... A, Sanchez-Cascos - 《European Heart Journal》 被引量: 68发表: 1983年 The Noonan syndrome. Twenty-one patients with Noonan syndrome ...
The second major type of multiple pterygium syndrome (MPS) is the milder, nonlethal Escobar variant (EVMPS [MIM 265000]). This is also characterized by multiple pterygia, arthrogryposis, facial dysmorphism, short stature, vertebral fusion, and other internal anomalies and is usually transmitted as...
A case of lethal multiple pterygium syndrome is presented. Besides the anomalies usually associated with this syndrome, cardiac hypertrophy and connective tissue abnormalities were observed. On the basis of these observations, we suggest that an abnormally fragile collagen constitution is the principal ...