Zobrazeno 1 - 10
of 346
pro vyhledávání: '"asphyxiating thoracic dystrophy"'
Autor:
Ahmed Dheyaa Al-Obaidi, Reem Al-Obiade, Nabeel Al-Fatlawi, Sajjad Ghanim Al-Badri, Mustafa Al-Musawi, Hashim Talib Hashim, Asma Al-Zeena, Mustafa Najah Al-Obaidi, Ahmed Shamil Hashim, Abdullah Al-Awad
Publikováno v:
Radiology Case Reports, Vol 19, Iss 12, Pp 5754-5757 (2024)
Jeune syndrome, a rare autosomal recessive disorder, is characterized by skeletal abnormalities, particularly a narrow, bell-shaped chest, leading to severe respiratory distress in newborns. This case report details a full-term female neonate present
Externí odkaz:
https://doaj.org/article/b7074083ed5a44adbc9f8a7a0b419e69
Publikováno v:
International Medical Case Reports Journal, Vol Volume 17, Pp 209-214 (2024)
Ali Alsuheel Asseri,1 Ahmad A Alzoani,2 Mohammed Almahdi,3 Hussein Almahdi,4 Nouf Almushayt,3 Noha Saad Alyazidi,3 Basmah Mohammed Al Mufarrih5 1Department of Child Health, King Khalid University, Abha, 61421, Saudi Arabia; 2Department of Neonatology
Externí odkaz:
https://doaj.org/article/ddc3867372cd41d9b92d639f0a33c04c
Publikováno v:
Clinical Case Reports, Vol 10, Iss 11, Pp n/a-n/a (2022)
Abstract We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified. Our report will h
Externí odkaz:
https://doaj.org/article/0a297ad00fa74983a2b8f4a0cea7eb55
Akademický článek
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Autor:
Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 11, Pp 1-20 (2020)
Abstract Mutations in genes affecting primary cilia cause ciliopathies, a diverse group of disorders often affecting skeletal development. This includes Jeune syndrome or asphyxiating thoracic dystrophy (ATD), an autosomal recessive skeletal disorder
Externí odkaz:
https://doaj.org/article/83076ddc0da44600bc5e023ad4e46b45
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 76, Iss , Pp 102117- (2022)
Introduction: Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is an autosomal recessive disease which causes thoracic insufficiency. Complications and life expectancy vary based on specific mutations. Infants with this condition
Externí odkaz:
https://doaj.org/article/b7e610745eb44f4a8a7d63add93e416f
Akademický článek
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Publikováno v:
Indian Journal of Radiology and Imaging, Vol 28, Iss 01, Pp 65-69 (2018)
We report a case of a 4-week-old female neonate with Jeune’s asphyxiating thoracic dystrophy (JATD) and coexistent situs anomaly, primarily presenting as gastric motility disorder. The child presented with abdominal distension and nonbilious vomiti
Externí odkaz:
https://doaj.org/article/02ce666fac224cf098f1e6436969dedd
Autor:
Peco-Antić Amira, Kostić Mirjana, Spasojević Brankica, Miloševski-Lomić Gordana, Paripović Dušan, Kruščić Divna, Cvetković Mirjana
Publikováno v:
Srpski Arhiv za Celokupno Lekarstvo, Vol 145, Iss 3-4, Pp 147-152 (2017)
Introduction/Objective. Jeune syndrome (JS) is a rare hereditary ciliopathy characterized by asphyxiating thoracic dystrophy, shortened limbs and brachydactyly. Extraskeletal anomalies such as chronic renal failure (CRF), hepatic fibrosis, and retini
Externí odkaz:
https://doaj.org/article/a6876651e8d9418aa3799037b224fa04
Publikováno v:
Вестник рентгенологии и радиологии, Vol 0, Iss 1, Pp 40-42 (2016)
The paper reports a clinical case of Jeune syndrome in a baby, in whom the diagnosis was established immediately after his birth. He was also diagnosed as having multiple congenital malformations, such as Dandy–Walker anomaly, hexadactyly of the le
Externí odkaz:
https://doaj.org/article/8ace8f91821849ffb7cf6cf5846be236