Asphyxiating Thoracic Dystrophy (Jeune Syndrome) Medication

1. O'Connor MB, Gallagher DP, Mulloy E. Jeune syndrome. Postgrad Med J. 2008 Oct. 84(996):559. [QxMD MEDLINE Link].

2. de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr. 2010 Jan. 169(1):77-88. [QxMD MEDLINE Link]. [Full Text].

3. Tongsong T, Chanprapaph P, Thongpadungroj T. Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome). J Ultrasound Med. 1999 Aug. 18(8):573-6. [QxMD MEDLINE Link].

4. Oberklaid F, Danks DM, Mayne V, Campbell P. Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child. 1977 Oct. 52(10):758-65. [QxMD MEDLINE Link]. [Full Text].

5. Yang SS, Langer LO Jr, Cacciarelli A, et al. Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study. Am J Med Genet Suppl. 1987. 3:191-207. [QxMD MEDLINE Link].

6. Novarino G, Akizu N, Gleeson JG. Modeling human disease in humans: the ciliopathies. Cell. 2011 Sep 30. 147(1):70-9. [QxMD MEDLINE Link]. [Full Text].

7. Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet. 2012 Aug 15. 160C(3):165-74. [QxMD MEDLINE Link].

8. Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 2011 Nov 11. 89(5):634-43. [QxMD MEDLINE Link].

9. Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet. 2012 May 4. 90(5):864-70. [QxMD MEDLINE Link].

10. Beales PL, Bland E, Tobin JL, et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun. 39(6):727-9. [QxMD MEDLINE Link].

11. Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar. 43(3):189-96. [QxMD MEDLINE Link].

12. Schmidts M, Hou Y, Cortes CR, et al. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 5. 6:7074. [QxMD MEDLINE Link]. [Full Text].

13. Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D. Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Hum Mutat. 2013 May. 34(5):714-24. [QxMD MEDLINE Link].

14. Hu Z, Hong S, Zhang Y, et al. Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation. Gene. 2019 May 20. 697:48-56. [QxMD MEDLINE Link].

15. Cossu C, Incani F, Serra ML, et al. New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. Clin Chim Acta. 2016 Apr 1. 455:172-80. [QxMD MEDLINE Link].

16. McInerney-Leo AM, Schmidts M, Cortes CR, et al. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet. 2013 Sep 5. 93 (3):515-23. [QxMD MEDLINE Link]. [Full Text].

17. Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009 May. 84(5):706-11. [QxMD MEDLINE Link].

18. Hidebrandt F, Benzing T, Katsanis N, et al. Ciliopathies. N Engl J Med. 2011. 364:1533-1543.

19. Scholey JM. Intraflagellar transport motors in cilia: moving along the cell's antenna. J Cell Biol. 2008 Jan 14. 180(1):23-9. [QxMD MEDLINE Link].

20. Hancock S, Froehlich C, Armijo-Garcia V, Meyer AD. Extracorporeal membrane oxygenation support in individuals with thoracic insufficiency. Perfusion. 2018 Nov. 33 (8):696-8. [QxMD MEDLINE Link].

21. Muthialu N, Mussa S, Owens CM, et al. One-stage sequential bilateral thoracic expansion for asphyxiating thoracic dystrophy (Jeune syndrome). Eur J Cardiothorac Surg. 2014 Oct. 46(4):643-7. [QxMD MEDLINE Link].

22. O'Brien A, Roth MK, Athreya H,et al. Management of Thoracic Insufficiency Syndrome in Patients With Jeune Syndrome Using the 70 mm Radius Vertical Expandable Prosthetic Titanium Rib. J Pediatr Orthop. 2015 Dec. 35 (8):783-97. [QxMD MEDLINE Link].

23. Conroy E, Eustace N, McCormack D. Sternoplasty and rib distraction in neonatal Jeune syndrome. J Pediatr Orthop. 2010 Sep. 30(6):527-30. [QxMD MEDLINE Link].

24. Poyner SE, Bradshaw WT. Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy. Neonatal Netw. 2013. 32(5):342-352. [QxMD MEDLINE Link].

Santina A Zanelli, MD Associate Professor, Department of Pediatrics, Division of Neonatology, University of Virginia Health System

Santina A Zanelli, MD is a member of the following medical societies: American Academy of Pediatrics, American Epilepsy Society, Society for Neuroscience, Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

James Bowman, MD Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical and Translational Research, College of American Pathologists

Disclosure: Nothing to disclose.

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