Results 241 to 250 of about 18,789 (283)
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Discovery of a connective tissue dysplasia in the Martin-Bell syndrome

American Journal of Medical Genetics Part A, 1984
AbstractThe fact that a connective tissue dysplasia is a component of the Martin‐Bell syndrome was a fortuitous discovery. A 26‐month‐old developmentally delayed boy had many signs of a connective tissue dysplasia for which he was referred to a University center where he was found to be fragile (X)‐positive without confirmation of a connective tissue ...
A Daniel, John M Opitz
exaly   +3 more sources

Connective tissue involvement in two patients with features of cranioectodermal dysplasia

American Journal of Medical Genetics, Part A, 2009
AbstractCranioectodermal dysplasia (CED) is an infrequently described autosomal recessive disorder characterized by craniofacial, ectodermal and skeletal abnormalities, and associated with increased risk of chronic renal failure. A degree of joint laxity has been noted in some CED patients, but significant skin and soft‐tissue laxity has not previously
Andrew E Fry   +2 more
exaly   +3 more sources

Neurological aspects of connective tissue dysplasia

S.S. Korsakov Journal of Neurology and Psychiatry, 2023
Disturbances in the formation of connective tissue lead to significant pathological changes in both individual organs and tissues, and at the organismal level. The complexity of diagnostics is also connected with the fact that there is no single terminology, a single view of the diagnostic criteria, a single approach among doctors of different ...
D.Kh. Khaibullina, R.G. Esin
openaire   +2 more sources

Headache in patients with connective tissue dysplasia

Practical medicine, 2023
Headache in patients with connective tissue dysplasia (CTD) is an urgent problem of modern medicine. The article discusses different types of headache in patients with connective tissue dysplasia. The most well studied are differentiated forms of connective tissue dysplasia (Ehlers — Danlos syndrome, Marfan syndrome, etc.) and, accordingly, variants of
D. M. MANSUROV, D. KH. KHAIBULLINA
openaire   +1 more source

Phenotypic signs of connective tissue dysplasia in adolescents

Russian Osteopathic Journal, 2023
Introduction. Connective tissue dysplasia (СTD) is a group of polymorphic pathological conditions caused by hereditary or congenital defects in collagen synthesis and accompanied by a violation of the functions of the musculoskeletal system and internal organs, which is considered as a factor in the development of pathology of the maxillofacial region ...
V. R. Shashmurina   +5 more
openaire   +1 more source

Developmental Dysplasia of the Hip in Patients with Connective-Tissue Disorders

JBJS Reviews, 2019
» There is a scarcity of literature on the management of hip dysplasia in patients with connective-tissue disorders, including Down syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Larsen syndrome, and osteogenesis imperfecta.» These genetic conditions result in abnormal connective-tissue and ligamentous laxity, and they ...
Alicia Kerrigan   +2 more
openaire   +2 more sources

Diagnosis and treatment of dorsopathy in patients with connective tissue dysplasia

Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2017
To study the pathogenesis, clinical manifestations and treatment of dorsopathy in patients with connective tissue dysplasia.Thirty-six patients, aged from 18 to 45 years, with lumbar-sacral radiculopathies associated with connective tissue dysplasia were examined.
M L, Chukhlovina, A A, Chukhlovin
openaire   +2 more sources

The features of macro- and micronutrients deficiency in the connective tissue dysplasia

SOVREMENNAYA PEDIATRIYA, 2017
В статье представлены современные сведения об участии магния, кальция и других макро- и микроэлементов в обмене веществ, в частности в метаболизме соединительной ткани. Освещены основные патогенетические механизмы формирования различных патологических состояний, в том числе дисплазии соединительной ткани, вследствие дефицита этих элементов.
openaire   +2 more sources

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