Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome)

Authors: Batuhan Aksoy, Gülipek Tigrel

Source: Türk Oftalmoloji Dergisi, Vol 55, Iss 1, Pp 53-56 (2025)

Subject Terms: jeune syndrome, retinal dystrophies, nyctalopia, asphyxiating thoracic dystrophy, inherited retinal diseases, Medicine, Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://doaj.org/toc/1300-0659; https://doaj.org/toc/2147-2661

Access URL: https://doaj.org/article/b1bb90decc2144c2807df1c3967c87bc

Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation

Authors: 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

Source: Radiology Case Reports, Vol 19, Iss 12, Pp 5754-5757 (2024)

Subject Terms: Jeune syndrome, Early renal dysfunction, Asphyxiating thoracic dystrophy, Neonatal respiratory distress, Skeletal dysplasia, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043324008902; https://doaj.org/toc/1930-0433

Access URL: https://doaj.org/article/b7074083ed5a44adbc9f8a7a0b419e69

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra‐Skeletal Organ Involvement

Authors: Asseri AA, Alzoani AA, Almahdi M, Almahdi H, Almushayt N, Alyazidi NS, Al Mufarrih BM

Source: International Medical Case Reports Journal, Vol Volume 17, Pp 209-214 (2024)

Subject Terms: srtd3, jeune syndrome, asphyxiating thoracic dystrophy, dync2h1, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.dovepress.com/whole-exome-sequencing-identifies-dync2h1-mutations-as-a-cause-of-jeun-peer-reviewed-fulltext-article-IMCRJ; https://doaj.org/toc/1179-142X

Access URL: https://doaj.org/article/ddc3867372cd41d9b92d639f0a33c04c

Case report: A simple and reliable approach for progressive internal distraction of the sternum for Jeune syndrome (asphyxiating thoracic dystrophy): preliminary experience and literature review of surgical techniques

Authors: Alessandro Inserra, Angelo Zarfati, Valerio Pardi, Arianna Bertocchini, Antonella Accinni, Ivan Pietro Aloi, Cristina Martucci, Simone Frediani

Source: Frontiers in Pediatrics, Vol 11 (2023)

Subject Terms: Jeune syndrome, sternal distractor, thoracic dystrophy, thoracic insufficiency syndrome (TIS), children, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1253383/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/347c006bb0db428fafa33d5915cd79e9

Overlapping holoprosencephaly‐polydactyl syndrome and asphyxiating thoracic dystrophy, an incidental finding in late prenatal ultrasound: A rare case report

Authors: Senai Goitom Sereke, Anthony Oriekot, Felix Bongomin

Source: Clinical Case Reports, Vol 9, Iss 3, Pp 1577-1582 (2021)

Subject Terms: alobar holoprosencephaly, Jeune syndrome, polydactyl, short ribs, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2050-0904

Access URL: https://doaj.org/article/5720bb87d7124908bdd62da4457b64b5

A rare case of neonatal dwarfism – Question

Authors: Valentina Ibba, Manuela Gallo, Lucrezia Giua Marassi, Luisa Anedda, Maria Antonietta Marcialis, Maria Cristina Pintus

Source: Journal of Pediatric and Neonatal Individualized Medicine, Vol 11, Iss 1, Pp e110133-e110133 (2022)

Subject Terms: jeune syndrome, asphyxia, prenatal ultrasound, thoracic diameter, radiography, shortened limbs, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://jpnim.com/index.php/jpnim/article/view/1370; https://doaj.org/toc/2281-0692

Access URL: https://doaj.org/article/1e21d71b80164d12895c151daba33711

Chapter 741 - Other Inherited Disorders of Skeletal Development

Authors: Hoover-Fong, Julie E., Albokhari, Daniah

Source: In Nelson Textbook of Pediatrics Edition: 22nd Edition. 2025:4354-4358

Laparoscopic gastrostomy in a patient with asphyxiating thoracic dystrophy

Authors: Ediana Hoxhallari, Elliot C. Pennington

Source: Journal of Pediatric Surgery Case Reports, Vol 76, Iss , Pp 102117- (2022)

Subject Terms: Asphyxiating thoracic dystrophy, Jeune syndrome, Laparoscopic pediatric surgery, Gastrostomy, Pediatrics, RJ1-570, Surgery, RD1-811

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213576621003389; https://doaj.org/toc/2213-5766

Access URL: https://doaj.org/article/b7e610745eb44f4a8a7d63add93e416f

Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case

Authors: Osman Güvenç, Saime Sündüs Uygun, Derya Çimen, Eyüp Aslan, Ali Annagür

Source: Türk Kardiyoloji Derneği Arşivi, Vol 44, Iss 6, Pp 503-506 (2016)

Subject Terms: asphyxiating thoracic dysplasia, cardiac abnormality, hypertrophic cardiomyopathy, jeune syndrome, newborn., Medicine, Internal medicine, RC31-1245, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tkd&un=TKDA-29677; https://doaj.org/toc/1016-5169

Access URL: https://doaj.org/article/f30c1c6e3f5f490d9c76d726f66e70c1

Clinical case of Jeune syndrome

Authors: N. V. Kosolapova, E. V. Pakhomova, V. P. Gavrilyuk, D. V. Dobrokhodova, M. S. Romashina

Source: Вестник рентгенологии и радиологии, Vol 0, Iss 1, Pp 40-42 (2016)

Subject Terms: jeune syndrome, asphyxiating thoracic dystrophy, respiratory failure, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: https://www.russianradiology.ru/jour/article/view/6; https://doaj.org/toc/0042-4676; https://doaj.org/toc/2619-0478

Access URL: https://doaj.org/article/8ace8f91821849ffb7cf6cf5846be236

DISPLASIA TORACICA ASFIXIANTE O SINDROME DE JEUNE

Authors: Sergio Díaz Z, Freddy Madrid S, Jorge León del P

Source: Revista Chilena de Obstetricia y Ginecología, Vol 68, Iss 4, Pp 322-326 (2003)

Subject Terms: Distrofia torácica asfixiante-Síndrome de Jeune, Asphyxiating thoracic dystrophy-Jeune Syndrome, Gynecology and obstetrics, RG1-991

File Description: electronic resource

Relation: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-75262003000400010; https://doaj.org/toc/0048-766X; https://doaj.org/toc/0717-7526

Access URL: https://doaj.org/article/0ea087ea874e49e795cda8093f19f6f4

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Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

Authors: Keogh Steven J, McKee Shane, Smithson Sarah F, Grier David, Steward Colin G

Source: BMC Pediatrics, Vol 12, Iss 1, p 48 (2012)

Subject Terms: Shwachman-Diamond syndrome, Asphyxiating thoracic dystrophy, Jeune syndrome, Differential diagnosis, Haematopoietic stem cell transplantation, Isochromosome 7q, Pancreatic insufficiency, Neonatal respiratory distress, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2431/12/48; https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/481e0e03509741e8a79eb1262bb867ed

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