Results 61 to 70 of about 1,246,443 (148)

Type 1 kyphoscoliotic Ehlers–Danlos syndrome caused by mutations of the PLOD1 gene: analysis of own observations

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
   Kyphoscoliotic type of Ehlers–Danlo syndrome occurs in the practice of doctors of different specialties. The main manifestations of the disease are congenital muscular hypotonia, progressive kyphoscoliosis, generalized joint hypermobility, dislocation/subluxation of the joints.
E. A. Nikolaeva, A. N. Semyachkina, R. G. Kuramagomedova, O. S. Groznova   +3 more
openaire   +1 more source

Ehlers-Danlos syndrome Type VI : Case report

, 1998
Ehlers-Danlos sendromu bağ dokusunun genetik geçiş gösteren bir hastalığıdır. Burada, eklem gevşekliği, deri bulguları gibi sendromun temel bulgularının yanısıra belirgin kifoskolyozunun da olması nedeniyle Ehlers-Danlos tip VI tanısı almış, anne ve ...
Ferda Özkınay, Galip Sarı, Özgür Çoğulu, Mahmut Çoker, Cihangir Özkınay, Ayşe Yenigün, Cumhur Gündüz   +6 more
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FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome [PDF]

, 2019
CLINICAL CHARACTERISTICS: FKBP14 kyphoscoliotic Ehlers-Danlos syndrome (FKBP14-kEDS) is characterized by congenital muscle hypotonia and weakness (typically improving during childhood), progressive scoliosis, joint hypermobility, hyperelastic skin ...
Giunta, Cecilia; https://orcid.org/, Rohrbach, Marianne; https://orcid.org/, Fauth, Christine, Baumann, Matthias   +3 more
core   +1 more source

Surgical treatment of aortic aneurysms in a patient with Ehlers-Danlos syndrome [PDF]

, 2010
Ehlers-Danlos syndrome IS a rare inherited disorder of the connective tissue that has been divided Into 10 types according to the clinical course and Inheritance In type IV Ehlers-Danlos syndrome extreme fragility of the arteries Is associated with ...
Anguseva, Tanja, Mitrev, Zan, Hristov, Nikola, Belostotsky, Vladimir   +3 more
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The Ehlers-Danlos Syndrome in a Xhosa Male [PDF]

, 2018
A Xhosa male with the typical features of the Ehlers-Danlos syndrome is presented. This condition has not previously been described in an indigenous inhabitant of Southern Africa.S. Afr. Med.
Pamphlett, R
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The Ehlers-danlos syndrome in a xhosa male [PDF]

, 2019
A Xhosa male with the typical features of the Ehlers-Danlos syndrome is presented. This condition has not previously been described in an indigenous inhabitant of Southern Africa.S. Afr. Med. J., 48, 741 (1974)
Pamphlett, R., Nelson, Matilda M.
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Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type

, 2016
Patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT) commonly suffer from pain. How this hereditary connective tissue disorder causes pain remains unclear although previous studies suggested it shares similar
A. Pepe, F. Camerota, G. Cruccu, LEONE, CATERINA, Celletti, C, Pepe, A, R. Baron, LA CESA, SILVIA, Baron, R, M. Di Franco, CRUCCU, Giorgio, A. Truini, DI STEFANO, GIULIA, Castori, M, M. Castori, S. La Cesa, G. Di Stefano, C. Celletti, DI FRANCO, Manuela, TRUINI, ANDREA, Camerota, F., C. Leone   +21 more
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86 Floppy infant syndrome due to connective tissue disorder. Case report of a patient with kyphoscoliotic Ehlers-Danlos syndrome [PDF]

Abstracts, 2021
Tomislav Smoljo, Sanda Huljev Frković, Nina Barišić, Ivo Barić, Danijela Petković Ramadža   +4 more
openaire   +1 more source

Ehlers-Danlos syndrome associated with acute pancreatitis [PDF]

, 1989
The Ehlers-Danlos syndrome is a polysystemic inherited connective tissue disease characterized by articular laxity, hyperelastic skin, a tendency to excessive bleeding in the presence of minimal trauma, and friability of different tissues.
Jimenez,, Sarra-Carbonell,
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Ehlers-Danlos Sendromu

, 2021
Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of inherited diseases with jointhypermobility, skin hyperextensibility and tissue fragility. There is no specific treatment for EDS.
Giray Bozkaya, Özlem
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