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Select item 111631431.

Spondylocostal dysostosis with type II split cord malformation: A report of a rare case and brief review of the literature

Michael Teklehaimanot Abera, Amanuel Aboye Ketema, Abubeker Fedlu Abdela, Tesfaye Gizaw Tefera

Radiol Case Rep. 2024 Aug; 19(8): 3339–3344. Published online 2024 May 22. doi: 10.1016/j.radcr.2024.04.095

PMCID:: PMC11163143

Abstract Article PDF–943K

Select item 107159782.

Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus

Raja Tamiru, Tesfahunegn Hailemariam, Amanuel Aboye, Bethel Germamo, Yodit Abraham, Erko Chala, Samuel Sisay Hailu

Radiol Case Rep. 2024 Feb; 19(2): 727–731. Published online 2023 Nov 30. doi: 10.1016/j.radcr.2023.11.024

PMCID:: PMC10715978

Abstract Article PDF–763K

Select item 97593323.

Natural history of KBG syndrome in a large European cohort

Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Isis Atallah, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto

Hum Mol Genet. 2022 Dec 15; 31(24): 4131–4142. Published online 2022 Jul 21. doi: 10.1093/hmg/ddac167

PMCID:: PMC9759332

Abstract Article PDF–1.5M

Select item 97324294.

Clinical genetics of spondylocostal dysostosis: A mini review

Muhammad Umair, Muhammad Younus, Sarfraz Shafiq, Anam Nayab, Majid Alfadhel

Front Genet. 2022; 13: 996364. Published online 2022 Nov 25. doi: 10.3389/fgene.2022.996364

PMCID:: PMC9732429

Abstract Article PDF–1.2M

Select item 94488295.

Thoracic insufficiency syndrome: Approaches to assessment and management

Katharine Tsukahara, Oscar Henry Mayer

Paediatr Respir Rev. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Paediatr Respir Rev. 2022 Dec; 44: 78–84. Published online 2022 Mar 7. doi: 10.1016/j.prrv.2022.02.003

PMCID:: PMC9448829

Abstract Article PDF–202K

Select item 92722236.

Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report

Surasak Puvabanditsin, Michelle Gorbonosov, Kristin Blackledge, Jeffrey Manzano, Matthew Federici, Rajeev Mehta

Clin Case Rep. 2022 Jul; 10(7): e6000. Published online 2022 Jul 11. doi: 10.1002/ccr3.6000

PMCID:: PMC9272223

Abstract Article PDF–4.6M

Select item 79279737.

A case report of Jarcho–Levin syndrome

Bhamidipaty K. Durgaprasad, Sonica Sharma, Payala Vijayalakshmi

J Family Community Med. 2021 Jan-Apr; 28(1): 55–58. Published online 2021 Jan 7. doi: 10.4103/jfcm.JFCM_303_20

PMCID:: PMC7927973

Abstract Article PDF–785K

Select item 75739688.

Urinary bladder neck diverticular stone in patient with multiple congenital anomaly (Jarcho-Levin syndrome)

Tjahjodjati, Simon Natanel, Zola Wijayanti

Urol Case Rep. 2020 Nov; 33: 101351. Published online 2020 Jul 16. doi: 10.1016/j.eucr.2020.101351

PMCID:: PMC7573968

Abstract Article PDF–2.5M

Select item 72648689.

Jarcho-Levin Syndrome: Two Consecutive Cases in the Same Family

Patsouras Grigorios, Maroudias George, Saloum Ioannis, Patsouras Konstantinos

J Family Reprod Health. 2019 Dec; 13(4): 220–222.

PMCID:: PMC7264868

Abstract Article PDF–444K

Select item 693598910.

Cervicothoracic Spinal Dysraphism: Unravelling the Pandora’s Box

Anant Mehrotra, Suyash Singh, Shruti Gupta, Satyadeo Pandey, Jayesh Sardhara, Kuntal K Das, Kamlesh S Bhaisora, Arun K Srivastava, Awadhesh K Jaiswal, Sanjay Behari

J Pediatr Neurosci. 2019 Oct-Dec; 14(4): 203–210. Published online 2019 Dec 3. doi: 10.4103/jpn.JPN_28_19

PMCID:: PMC6935989

Abstract Article

Select item 622142611.

Expansion Thoracoplasty for Thoracic Insufficiency Syndrome Associated with Jarcho-Levin Syndrome

Ajeya P. Joshi, Megan K. Roth, James W. Simmons, Felix Shardonofsky, Robert M. Campbell, Jr.

JBJS Essent Surg Tech. 2015 May 27; 5(2): e12. Published online 2015 Jun 24. doi: 10.2106/JBJS.ST.N.00017

PMCID:: PMC6221426

Abstract Article PDF–1.0M

Select item 589056612.

Lipomeningomyelocele with Fatty Filum Terminale in a Patient with Jarcho–Levin Syndrome: A Rare Association Requiring Special Attention

Suyash Singh, Kuntal K. Das, Raj Kumar

J Pediatr Neurosci. 2017 Oct-Dec; 12(4): 386–388. doi: 10.4103/jpn.JPN_108_17

PMCID:: PMC5890566

Abstract Article

Select item 531861013.

Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia

Martí Pons-Odena, Alba Verges, Natalia Arza, Francisco José Cambra

BMJ Case Rep. 2017; 2017: bcr2016217027. Published online 2017 Feb 14. doi: 10.1136/bcr-2016-217027

PMCID:: PMC5318610

Abstract Article PDF–472K

Select item 506711014.

Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation

Namita Chandra, Sanjay Kumar, Vaibhav Raj, Pawan Kumar Vishwakarma, Sheela Sinha, Ram Prakash Saha

Am J Case Rep. 2016; 17: 745–748. Published online 2016 Oct 14. doi: 10.12659/AJCR.898165

PMCID:: PMC5067110

Abstract Article PDF–1.0M

Select item 477065015.

Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature

Narendra Rai, Neha Thakur, Naheed Zin Khan, Akhilesh Dutt Dwivedi

J Pediatr Neurosci. 2015 Oct-Dec; 10(4): 362–364. doi: 10.4103/1817-1745.174456

PMCID:: PMC4770650

Abstract Article

Select item 447471916.

Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat

Koichiro Abe, Nobuhiko Takamatsu, Kumiko Ishikawa, Toshiko Tsurumi, Sho Tanimoto, Yukina Sakurai, Thomas Lisse, Kenji Imai, Tadao Serikawa, Tomoji Mashimo

PLoS One. 2015; 10(6): e0130231. Published online 2015 Jun 19. doi: 10.1371/journal.pone.0130231