Zobrazeno 1 - 10
of 325
pro vyhledávání: '"Jeune syndrome"'
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
Autor:
Alessandro Inserra, Angelo Zarfati, Valerio Pardi, Arianna Bertocchini, Antonella Accinni, Ivan Pietro Aloi, Cristina Martucci, Simone Frediani
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundDescribed for the first time in 1954, Jeune syndrome (JS), often called asphyxiating thoracic dystrophy, is a congenital musculoskeletal disease characterized by short ribs, a narrow thorax, and small limbs. In this study, we analyzed and p
Externí odkaz:
https://doaj.org/article/347c006bb0db428fafa33d5915cd79e9
Akademický článek
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Publikováno v:
Clinical Case Reports, Vol 9, Iss 3, Pp 1577-1582 (2021)
Abstract Holoprosencephaly‐polydactyly syndrome and asphyxiating thoracic dystrophy rarely overlap but if they do, they have poorer prognosis. Early prenatal detection of multiple congenital anomalies plays a crucial role in the management of pregn
Externí odkaz:
https://doaj.org/article/5720bb87d7124908bdd62da4457b64b5
Autor:
Valentina Ibba, Manuela Gallo, Lucrezia Giua Marassi, Luisa Anedda, Maria Antonietta Marcialis, Maria Cristina Pintus
Publikováno v:
Journal of Pediatric and Neonatal Individualized Medicine, Vol 11, Iss 1, Pp e110133-e110133 (2022)
I. was born from a 34-year-old woman at the 35th week of gestational age, from an elective cesarean section due to premature rupture of membranes and suspected fetal malformation with polyhydramnios. At the 28th week of gestational age, there was a f
Externí odkaz:
https://doaj.org/article/1e21d71b80164d12895c151daba33711
Akademický článek
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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:
Türk Kardiyoloji Derneği Arşivi, Vol 44, Iss 6, Pp 503-506 (2016)
Summary– Jeune syndrome (Asphyxiating thoracic dysplasia) is a rare dystrophy of the skeleton, inherited as an autosomal recessive condition. Patients develop a narrowed thorax, rhizomelic dwarfism, and hepatic, renal, and pancreatic abnormalities.
Externí odkaz:
https://doaj.org/article/f30c1c6e3f5f490d9c76d726f66e70c1