Asphyxiating Thoracic Dystrophy (Jeune Syndrome)

Updated: Apr 23, 2015
  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Maria Descartes, MD  more...
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Overview

Background

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  • In 1955, Jeune et al described familial asphyxiating thoracic dystrophy in a pair of siblings with severely narrow thoraxes.
  • This condition is also known as Jeune syndrome. Jeune syndrome, a potentially lethal congenital dwarfism, is a rare autosomal recessive disorder characterized by typical skeletal dysplasias, such as a narrow thorax and micromelia, with respiratory and renal manifestations. [1, 2] Respiratory symptoms widely vary from respiratory failure and infantile death to latent phenotype without respiratory symptoms. See the images below.
    An infant with Jeune syndrome. Note the narrow che An infant with Jeune syndrome. Note the narrow chest and shortened upper extremities.
    A child with Jeune syndrome. Note long narrow thor A child with Jeune syndrome. Note long narrow thorax with respiratory difficulty.
    Note the shortened upper extremity with acromelic Note the shortened upper extremity with acromelic shortening.
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Pathophysiology

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  • Classic manifestations in infancy include dwarfism with short ribs, short limbs, and characteristic radiographic changes in the ribs and pelvis. The severity of clinical and radiographic features varies.
  • All patients have small chests, but the degree of the respiratory distress varies from negligible to rapidly fatal.
  • Lung hypoplasia, presumably due to a restricted thoracic cage, is the major cause of death in infancy.
  • Patients who survive the newborn period may later develop renal and pancreatic insufficiency. [3]
  • Variability in clinical, radiographic, and pathological manifestations may be related to genetic heterogeneity.
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Epidemiology

Frequency

United States

  • Incidence is estimated at 1 case per 100,000-130,000 live births. [4]

Mortality/Morbidity

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  • Although Jeune syndrome may be associated with bilateral microcystic renal disease, which may gradually progress to tubular atrophy and renal failure, the most common and prominent clinical presentation is alveolar hypoventilation. Alveolar hypoventilation is caused by impaired chest expansion as a result of short horizontally placed ribs.
  • Furthermore, most patients with Jeune syndrome (approximately 60-70%) die from respiratory failure in early infancy and early childhood. Chronic renal failure may ensue in survivors.
  • Few patients reach adolescence or adulthood.

Race

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  • Jeune syndrome has no race predilection.

Sex

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  • The syndrome is not associated with any sex predilection.

Age

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  • Jeune syndrome may be detected at birth or during infancy because of typical clinical and radiographic signs.
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