Genetics of Asphyxiating Thoracic Dystrophy (Jeune Syndrome) Follow-up

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 11, 2011
 

Further Inpatient Care

  • Treat postoperative ventilatory problems, and minimize secondary damage to lungs caused by prolonged ventilatory support in patients with Jeune syndrome.
  • Treat respiratory infections and cardiac insufficiency.
Next

Complications

  • Pneumothorax
  • Mucous plugging of a bronchus
  • Repeated infections
  • Progressive herniation of lung through sternal defect
  • Cardiac insufficiency
  • Development of significant respiratory compromise after pectus excavatum repair
    • Respiratory compromise generally develops years after the original pectus operation.
    • Most patients exhibit severe growth retardation of the upper chest wall resulting in restrictive pulmonary function test results.
Previous
Next

Prognosis

  • Prognosis is difficult to predict in each individual case because frequent pulmonary complications and cystic renal lesions are not always directly related to severity of skeletal changes.
  • Jeune syndrome is compatible with life, although respiratory failure and infections are often fatal during infancy.
  • The severity of thoracic constriction widely varies. For those patients who survive infancy, the thorax tends to revert to normal with improving respiratory function. This suggests that the lungs have a normal growth potential and the respiratory problems are secondary to restricted rib cage deformity.
  • Renal failure may ensue later. Renal involvement is the major prognostic factor in those patients who survive the respiratory insufficiency during infancy.
  • Survivors are short in stature.
Previous
Next

Patient Education

  • Up-to-date information about the syndrome and resources should be available to the families. The following organizations can provide useful information:

Jeune's Syndrome Support Network

c/o Kurt Hernon

1400 S Lakeview Boulevard

Lorain, OH 44052

Phone: 440-246-1578

email: kurage@centuryinter.net

Jeune Family Support Group

Asphyxiating Thoracic Dystrophy

3710 W Temperance

Lambertville, MI 48144

Phone: 313-854-8132

Little People of America (LPA), Inc.

PO Box 745 Lubbock, TX 79408

Phone: 888-LPA-2001

email: LPADataBase@juno.com

International Skeletal Dysplasia Registry

Cedars-Sinai Medical Center

444 S San Vicente Boulevard,

Suite 1001 Los Angeles, CA 90048

Phone: 310-855-7488

e-mail: mpriore@mailgate.csmc.edu

International Center for Skeletal Dysplasia

St Joseph Hospital

7620 York Road

Towson, MD 21204

Phone: 410-337-1250

Previous
 
Contributor Information and Disclosures
Author

Harold Chen, MD, MS, FAAP, FACMG  Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, 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, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

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 Research, and College of American Pathologists

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.

Hagop Youssoufian, MD, MSc  Vice President of Clinical Research, ImClone Systems Incorporated

Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

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

  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. May 10 2009;[Medline].

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

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

  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. [Medline].

  6. 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. Jun 2007;39(6):727-9. [Medline].

  7. Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet A. May 2011;155A(5):1021-32. [Medline].

  8. Walters AM, Beals PL. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol. 2011;26:1039-1056.

  9. 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;39:727-729.

  10. Haycraft CJ, Zhang Q, Song B, Jackson WS, Detloff PJ, Serra R. Intraflagellar transport is essential for endochondral bone formation. Development. Jan 2007;134(2):307-16. [Medline].

  11. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. Sep 2004;114(3):889-94. [Medline]. [Full Text].

  12. Amirou M, Bourdat-Michel G, Pinel N, et al. Successful renal transplantation in Jeune syndrome type 2. Pediatr Nephrol. May 1998;12(4):293-4. [Medline].

  13. Aronson DS, van Nierop JC, Taminiau A, Vos A. Homologous bone graft for expansion thoracoplasty in Jeune's asphyxiating thoracic dystrophy. J Pediatr Surg. 1999;34:500-503. [Medline].

  14. Aurora P, Wallis CE. Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. Clin Dysmorphol. Oct 1999;8(4):259-63. [Medline].

  15. Bard LA, Bard PA, Owens GW, et al. Retinal involvement in thoracic-pelvic-phalangeal dystrophy. Arch Ophthalmol. Feb 1978;96(2):278-81. [Medline].

  16. Barnes ND, Hull D, Milner AD, et al. Chest reconstruction in thoracic dystrophy. Arch Dis Child. Dec 1971;46(250):833-7. [Medline].

  17. Brueton LA, Dillon MJ, Winter RM. Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?. J Med Genet. Apr 1990;27(4):252-5. [Medline].

  18. Chen CP, Lin SP, Liu FF, et al. Prenatal diagnosis of asphyxiating thoracic dysplasia (Jeune syndrome). Am J Perinatol. Nov 1996;13(8):495-8. [Medline].

  19. Chen H. Asphyxiating thoracic dystrophy. In: Atlas of Genetic Diagnosis and Counseling. Totowas, New Jersey: Humana Press; 2006:84-91.

  20. Cortina H, Beltran J, Olague R, et al. The wide spectrum of the asphyxiating thoracic dysplasia. Pediatr Radiol. Apr 19 1979;8(2):93-9. [Medline].

  21. Cremin BJ. Infantile thoracic dystrophy. Br J Radiol. Mar 1970;43(507):199-204. [Medline].

  22. Davis JT, Heistein JB, Castile RG, et al. Lateral thoracic expansion for Jeune's syndrome: midterm results. Ann Thorac Surg. Sep 2001;72(3):872-7; discussion 878. [Medline].

  23. Davis JT, Ruberg RL, Leppink DM, et al. Lateral thoracic expansion for Jeune's asphyxiating dystrophy: a new approach. Ann Thorac Surg. Sep 1995;60(3):694-6. [Medline].

  24. den Hollander NS, Robben SG, Hoogeboom AJ, Niermeijer MF, Wladimiroff JW. Early prenatal sonographic diagnosis and follow-up of Jeune syndrome. Ultrasound Obstet Gynecol. Oct 2001;18(4):378-83. [Medline].

  25. Edelson PJ, Spackman TJ, Belliveau RE, Mahoney MJ. A renal lesion in asphyxiating thoracic dysplasia. Birth Defects Orig Artic Ser. 1974;10(4):51-6. [Medline].

  26. Finegold MJ, Katzew H, Genieser NB, Becker MH. Lung structure in thoracic dystrophy. Am J Dis Child. Aug 1971;122(2):153-9. [Medline].

  27. Friedman JM, Kaplan HG, Hall JG, et al. The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult. Am J Med. Dec 1975;59(6):857-62. [Medline].

  28. Herdman RC, Langer LO. The thoracic asphyxiant dystrophy and renal disease. Am J Dis Child. Aug 1968;116(2):192-201. [Medline].

  29. Hudgins L, Rosengren S, Treem W, Hyams J. Early cirrhosis in survivors with Jeune thoracic dystrophy. J Pediatr. May 1992;120(5):754-6. [Medline].

  30. Kaddoura IL, Obeid MY, Mroueh SM, Nasser AA. Dynamic thoracoplasty for asphyxiating thoracic dystrophy. Ann Thorac Surg. Nov 2001;72(5):1755-8. [Medline].

  31. Karjoo M, Koop CE, Cornfeld D, Holtzapple PG. Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy. Arch Dis Child. Feb 1973;48(2):143-6. [Medline].

  32. Kozlowski K, Masel J. Asphyxiating thoracic dystrophy without respiratory disease: report of two cases of the latent form. Pediatr Radiol. Oct 26 1976;5(1):30-3. [Medline].

  33. Labrune P, Fabre M, Trioche P, et al. Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid. Am J Med Genet. Dec 3 1999;87(4):324-8. [Medline].

  34. Langer LO Jr. Thoracic-pelvic-phalangeal dystrophy: asphyxiating thoracic dystrophy of the newborn, infantile thoracic dystrophy. Radiology. 1968;91:447-456.

  35. Morgan NV, Bacchelli C, Gissen P, et al. A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. J Med Genet. Jun 2003;40(6):431-5. [Medline]. [Full Text].

  36. Norberg WJ. Long-term follow-up of asphyxiating thoracic dystrophy: results of first report of thoracoplasty. Ann Thorac Surg. Dec 2002;74(6):2226; author reply 2226. [Medline].

  37. Ozcay F, Derbent M, Demirhan B, Tokel K, Saatci U. A family with Jeune syndrome. Pediatr Nephrol. Aug 2001;16(8):623-6. [Medline].

  38. Pirnar T, Neuhauser EB. Asphyxiating thoracic dystrophy of the newborn. Am J Roentgenol Radium Ther Nucl Med. Oct 1966;98(2):358-64. [Medline].

  39. Russell JG, Chouksey SK. Asphyxiating thoracic dystrophy. Br J Radiol. Nov 1970;43(515):814-5. [Medline].

  40. Sarimurat N, Elcioglu N, Tekant GT, et al. Jeune's asphyxiating thoracic dystrophy of the newborn. Eur J Pediatr Surg. Apr 1998;8(2):100-1. [Medline].

  41. Shah KJ. Renal lesion in Jeune's syndrome. Br J Radiol. May 1980;53(629):432-6. [Medline].

  42. Sharoni E, Erez E, Chorev G, et al. Chest reconstruction in asphyxiating thoracic dystrophy. J Pediatr Surg. Oct 1998;33(10):1578-81. [Medline].

  43. Shokeir MHK, Houston CS, Awen CF. Asphyxiating thoracicchondrodystrophy: association with renal disease and evidence for possible heterozygous expression. J Med Genet. 1971;8:107-112. [Medline]. [Full Text].

  44. Sigalet DL, Montgomery M, Harder J. Cardiopulmonary effects of closed repair of pectus excavatum. J Pediatr Surg. Mar 2003;38(3):380-5; discussion 380-5. [Medline].

  45. Todd DW, Tinguely SJ, Norberg WJ. A thoracic expansion technique for Jeune's asphyxiating thoracic dystrophy. J Pediatr Surg. Feb 1986;21(2):161-3. [Medline].

  46. Turkel SB, Diehl EJ, Richmond JA. Necropsy findings in neonatal asphyxiating thoracic dystrophy. J Med Genet. Apr 1985;22(2):112-8. [Medline].

  47. Waldhausen JH, Redding GJ, Song KM. Vertical expandable prosthetic titanium rib for thoracic insufficiency syndrome: a new method to treat an old problem. J Pediatr Surg. Jan 2007;42(1):76-80. [Medline].

  48. Weber TR. Further experience with the operative management of asphyxiating thoracic dystrophy after pectus repair. J Pediatr Surg. Jan 2005;40(1):170-3. [Medline].

  49. Weber TR, Kurkchubasche AG. Operative management of asphyxiating thoracic dystrophy after pectus repair. J Pediatr Surg. Feb 1998;33(2):262-5. [Medline].

  50. Whitley CB, Schwarzenberg SJ, Burke BA, Freese DK, Gorlin RJ. Direct hyperbilirubinemia and hepatic fibrosis: a new presentation of Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet Suppl. 1987;3:211-20. [Medline].

  51. Wilson DJ, Weleber RG, Beals RK. Retinal dystrophy in Jeune's syndrome. Arch Ophthalmol. May 1987;105(5):651-7. [Medline].

  52. Yang SS, Heidelberger KP, Brough AJ, Corbett DP, Bernstein J. Lethal short-limbed chondrodysplasia in early infancy. Perspect Pediatr Pathol. 1976;3:1-40. [Medline].

  53. Yerian LM, Brady L, Hart J. Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). Semin Liver Dis. May 2003;23(2):195-200. [Medline].

 
Previous
Next
 
An infant with Jeune syndrome. Note the narrow chest and shortened upper extremities.
A child with Jeune syndrome. Note long narrow thorax with respiratory difficulty.
Note cystic renal dysplasia on the left kidney and renal hypoplasia on the right kidney.
Note the narrow chest and shortened ribs.
Note the shortened upper extremity with acromelic shortening.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.