Zobrazeno 1 - 10
of 248
pro vyhledávání: '"Congenital Contractures"'
Autor:
Anik Biswas, Sudipta Deb Nath, Tamim Ahsan, M. Monir Hossain, Sharif Akhteruzzaman, Abu Ashfaqur Sajib
Publikováno v:
Journal of Genetic Engineering and Biotechnology, Vol 20, Iss 1, Pp 1-12 (2022)
Abstract Background Arthrogryposis is a medical term used to describe congenital contractures which often affect multiple limbs. Distal arthrogryposis (DA) is one of the major categories of arthrogryposis that primarily affects the distal parts of th
Externí odkaz:
https://doaj.org/article/8657437eb6ac4d17968180bec522e40a
Autor:
Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100213- (2023)
Summary: Contraction of the human sarcomere is the result of interactions between myosin cross-bridges and actin filaments. Pathogenic variants in genes such as MYH7, TPM1, and TNNI3 that encode parts of the cardiac sarcomere cause muscle diseases th
Externí odkaz:
https://doaj.org/article/08f67d5e060d475c83319e61695d173d
Publikováno v:
Clinical and Experimental Obstetrics & Gynecology, Vol 47, Iss 6, Pp 978-982 (2020)
Freeman-Sheldon syndrome, also known as Whistling Face syndrome, is a rare disorder associated with multiple congenital contractures. In this report, we present the course of the disease from the neonatal period to adulthood in one female patient and
Externí odkaz:
https://doaj.org/article/d33ecbc540624f9c859eed5163c7d8fa
Publikováno v:
Вопросы современной педиатрии, Vol 19, Iss 4, Pp 298-303 (2020)
Background. Arthrogryposis is severe congenital musculoskeletal disease with contractures of two or more joints of the lower and/or upper limbs and usually in combination with muscular hypo- or atrophy.Clinical Case Description. Child F. was hospital
Externí odkaz:
https://doaj.org/article/791769fa0b2642388b4419256c67caa9
Autor:
Nikolaos Laliotis, Konstantia Tsoni, Panagiotis Konstantinidis, Eleni Agakidou, Chrysanthos Chrysanthou
Publikováno v:
Clinical Case Reports, Vol 8, Iss 7, Pp 1230-1233 (2020)
Abstract Fetuses with prenatal diagnosis of reduced mobility and malformation are at increased risk to sustain neonatal femoral fractures. Labor difficulties even after an elective cesarean section may trigger the fractures of the long bones.
Externí odkaz:
https://doaj.org/article/7699538cfd944686bc91f3dc655c5c38
Akademický článek
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Autor:
A. O. Borovikov, I. V. Sharkova, O. P. Ryzhkova, A. L. Chukhrova, O. A. Schagina, T. V. Markova, E. L. Dadali
Publikováno v:
Нервно-мышечные болезни, Vol 9, Iss 1, Pp 83-91 (2019)
A description of the clinical and genetic characteristics of the syndrome of congenital contractures of the limbs and face in combination with muscular hypotonia and psychomotor retardation of 2 patients from Russia is presented. As a result of full-
Externí odkaz:
https://doaj.org/article/18521ae1a47b4ad0977bbb8454c209fc
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Eleni Agakidou, Panagiotis Konstantinidis, Konstantia Tsoni, Nikolaos Laliotis, Chrysanthos Chrysanthou
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 8, Iss 7, Pp 1230-1233 (2020)
Clinical Case Reports, Vol 8, Iss 7, Pp 1230-1233 (2020)
Fetuses with prenatal diagnosis of reduced mobility and malformation are at increased risk to sustain neonatal femoral fractures. Labor difficulties even after an elective cesarean section may trigger the fractures of the long bones.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6307358579e0767b093fcbd791e4bb7d
https://doi.org/10.1002/ccr3.2877
https://doi.org/10.1002/ccr3.2877