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 ...
We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neu-romuscular ...
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, ...
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...
Multiple pterygium syndrome, Escobar variant (MPSEV) is a rare congenital condition, which is inherited with an autosomal recessive pattern. It has an unknown incidence but is more common among children from consanguineous relationships. It is caused by a mutation in the CHRNG gene on chromosome ...
Escobar syndrome (multiple pterygium syndrome) associated with thoracic kyphoscoliosis, lordoscoliosis, and severe restrictive lung disease: a case report - Dodson, Boachie-Adjei - 2005 () Citation Context ...intercrural joints accompanied by multiple pterygia, ptosis, genital abnormalities, and cleft...
Escobar syndrome also known as non lethal type of multiple pterygiumsyndrome, is characterised by webbing (pterygium) of neck, axilla and extremities, fixed contracture of multiple joints (arthogryposis) and with normal intelligence.Pterygium syndromes are heterogenous group of disorders with sporadic, ...
MULTIPLE human abnormalitiesRARE diseasesEscobar syndrome (nonlethal type of multiple pterygium syndrome) is a very rare genetic disorder. The central manifestations of Escobar syndrome are the presence of multiple pterygia, fixed joint contractures, and characteristic facies. Here, we r...
multiple pterygium syndrome type EscobarpterygiumwebbingWe report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe ...
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathyTPM2 geneArthrogryposisWhole exome sequencingAutosomal recessiveCongenital myopathyRodsPathogenic variants in TPM2 have been associated with a variable clinical spectrum, including...