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Asphyxiating Thoracic Dystrophy (Jeune Syndrome)

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

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 cheAn infant with Jeune syndrome. Note the narrow chest and shortened upper extremities.
    A child with Jeune syndrome. Note long narrow thorA 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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Contributor Information and Disclosures
Author

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.

Specialty Editor Board

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.

Chief Editor

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.

Additional Contributors

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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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.
 
 
 
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