Asphyxiating Thoracic Dystrophy (Jeune Syndrome) Follow-up

Updated: Jun 16, 2017
  • Author: Santina A Zanelli, MD; Chief Editor: Maria Descartes, MD  more...
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Follow-up

Further Outpatient Care

Recommendations for follow-up and monitoring are summarized below [2, 21] :

  • Physical examination - Frequent until age 2 years, then yearly
  • Liver function and urine osmolality - Every year
  • Abdominal ultrasonogram - At ages 2, 5, 10, and 15 years or as indicated
  • Spirometry assessments - After age 5 years
  • Ophthalmologic examination - At ages 5 and 10 years
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Further Inpatient Care

See the list below:

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

See the list below:

  • 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.
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Prognosis

See the list below:

  • 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.
  • JS 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.
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Patient Education

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

UCLA International Skeletal Dysplasia Registry

Phone: 310-825-8998

E-mail: Salon@mednet.ucla.edu

Website: http://ortho.ucla.edu/isdr

Little People of America (LPA), Inc.

250 El Camino Real, Suite 218

Tustin, CA  92780

Phone: 888-LPA-2001

E-mail: info@lpaonline.org

http://www.lpaonline.org/

 

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