Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Escobar syndrome"'
Publikováno v:
Medicine Science, Vol 10, Iss 3, Pp 1049-53 (2021)
Multiple Pterygium syndrome (MPS) is characterized by antecubital, popliteal pterygium, short stature, dysmorphic face, kyphoscoliosis, club foot, genital and cardiac malformations. Mutation in the acetylcholine nicotinergic receptor gamma polypeptid
Externí odkaz:
https://doaj.org/article/9fe9d7b389c442a981de421c9a2b3ef6
Publikováno v:
Journal of Indian Association of Pediatric Surgeons, Vol 27, Iss 5, Pp 641-643 (2022)
Escobar 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 repo
Externí odkaz:
https://doaj.org/article/72b45a6d96b44a7e93c2acaf90d59909
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Faruk Çiçekçi
Publikováno v:
İstanbul Medical Journal, Vol 18, Iss 4, Pp 248-250 (2017)
Escobar syndrome is a genetic disorder that causes orthopedic and respiratory malformations. Patients with Escobar syndrome are important by anesthesia management due to various airway difficulties and the presence of malignant hyperthermia. In this
Externí odkaz:
https://doaj.org/article/eab9010584934fa8ad5351acd77c7034
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Eurasian Journal of Medicine, Vol 44, Iss 2, Pp 117-121 (2012)
Multiple pterygium syndrome (MPS) is a syndrome that is characterized abnormal face, short length and skin pterygiums on some body legions (servical, antecubital, popliteal, interdigital and on neck). It is also called as Pterygium Colli syndrome, Es
Externí odkaz:
https://doaj.org/article/5b2a93c1c6d84aa586510cb028f7d03d
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, Simonetta Rosato, Heidi Fodstad, Belinda Campos-Xavier, Emanuele Soncini, Giuseppina Comitini, Daniele Frattini, Teresa Grimaldi, Maria Marinelli, Davide Martorana, Antonio Percesepe, Silvia Sassi, Carlo Fusco, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli
Publikováno v:
Genes; Volume 13; Issue 1; Pages: 29
Genes
Genes, Vol 13, Iss 29, p 29 (2022)
Genes, vol. 13, no. 1, pp. 29
Genes
Genes, Vol 13, Iss 29, p 29 (2022)
Genes, vol. 13, no. 1, pp. 29
The term “arthrogryposis” is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74ae30ac0850858077df740a20c8d3a8
Publikováno v:
Indian Journal of Anaesthesia, Vol 57, Iss 6, Pp 603-605 (2013)
Escobar syndrome is a rare autosomal recessive disorder characterized by flexion joint and digit contractures, skin webbing, cleft palate, deformity of spine and cervical spine fusion. Associated difficult airway is mainly due to micrognathia, retrog
Externí odkaz:
https://doaj.org/article/1ae1e450402647ac9c251ea4b9a8f078
Autor:
ALGhasab, Naif Saad, Alshehri, Bandar, Altamimi, Leen Abdullah, Assiri, Raghad Asaad, AlYousef, Loujain Ahmad, ALMesned, Sulaiman, ALreshidi, Fayez Saud, Kharabsheh, Suleiman M., Al-Saud, Sara Abou, Alharbi, Waleed
Publikováno v:
Medicine
Rationale: Escobar syndrome (ES) is an autosomal recessive disorder. It is highly characterized by facial abnormalities, congenital diaphragmatic muscle weakness, myasthenic-like features, and skin pterygiums on multiple body legions. ES is a rare co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmc_________::00f6c09f56eb508a82a450ec1c554a3a
http://europepmc.org/articles/PMC8322495
http://europepmc.org/articles/PMC8322495