Further Outpatient Care
Recommendations for follow-up and monitoring are summarized below [2, 24] :
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Physical examination - Frequent until age 2 years, then yearly
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Liver function and urine osmolality - Every year
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Abdominal ultrasonogram - At ages 2, 5, 10, and 15 years or as indicated
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Spirometry assessments - After age 5 years
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Ophthalmologic examination - At ages 5 and 10 years
Further Inpatient Care
See the list below:
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Treat postoperative ventilatory problems, and minimize secondary damage to lungs caused by prolonged ventilatory support in patients with JS.
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Treat respiratory infections and cardiac insufficiency.
Complications
See the list below:
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Pneumothorax
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Mucous plugging of a bronchus
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Repeated infections
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Progressive herniation of lung through sternal defect
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Cardiac insufficiency
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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.
Prognosis
See the list below:
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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.
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JS syndrome is compatible with life, although respiratory failure and infections are often fatal during infancy.
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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.
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Renal failure may ensue later. Renal involvement is the major prognostic factor in those patients who survive the respiratory insufficiency during infancy.
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Survivors are short in stature.
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:
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US National Library of Medicine: https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy
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Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/3049/jeune-syndrome
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Jeune Syndrome Foundation: http://www.jeunes.org.uk/
Patients may also enroll in the UCLA International Skeletal Dysplasia Registry (ISDR).
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
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An infant with Jeune syndrome. Note the narrow chest and shortened upper extremities.
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A child with Jeune syndrome. Note long narrow thorax with respiratory difficulty.
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Note cystic renal dysplasia on the left kidney and renal hypoplasia on the right kidney.
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Note the narrow chest and shortened ribs.
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Note the shortened upper extremity with acromelic shortening.
