Asphyxiating Thoracic Dystrophy (Jeune Syndrome) Workup

Updated: May 01, 2019
  • Author: Santina A Zanelli, MD; Chief Editor: Maria Descartes, MD  more...
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Laboratory Studies

The following studies are recommended in JS:

  • Urinalysis

    • Hematuria

    • Proteinuria

    • Defective urine concentrating capacity

  • Arterial blood gas (ABG) sampling: Hypoxia and hypercarbia in room air reflect severe restrictive lung disease


Imaging Studies

See the list below:

  • Newborn and infant radiography

    • Small and bell-shaped thorax with reduced transverse and anterior-posterior diameter

    • Short and horizontally oriented ribs with irregular costochondral junctions and bulbous and irregular anterior ends

    • Short, squared iliac wings

    • Trident appearance of acetabular margin

    • Short limbs relative to trunk

    • Variable limb shortening

    • Short phalanges, metacarpals, or metatarsals, with or without polydactyly

    • Premature ossification of the capital femoral epiphyses

  • Childhood radiology

    • Relatively large thorax with growth of ribs

    • Short ilium with normal flaring of iliac wings

    • Striking cone-shaped epiphyses and early fusion between the epiphyses and metaphyses of the distal and middle phalanges

    • Short distal and middle phalanges

    • Varying shortening of extremities relative to trunk

  • Prenatal ultrasonography

    • Detection of affected second-trimester and third-trimester fetuses of at-risk families has been reported

    • Characteristic findings include a narrow thorax, short hypoplastic ribs, and short tubular bones

    • Other ultrasonographic findings include polyhydramnios and absent or feeble fetal respiratory movements


Other Tests

See the list below:

  • Pulmonary function testing may reveal severe restrictive lung disease.



See the list below:

  • Renal biopsy may reveal cystic tubular dysplasia with or without glomerular sclerosis.


Histologic Findings

See the list below:

  • Lungs - Hypoplastic lungs due to a marked reduction in the number of alveolar ducts and alveoli (hypoplasia of alveoli)

  • Cartilages - Irregular endochondral ossification with patchy distribution of physial zone of hypertrophy and radiologically irregular metaphysial ends (asphyxiating thoracic dystrophy type I) and diffusely retarded and disorganized physes with smooth cartilage bone junctions and radiologically smooth metaphysial ends (asphyxiating thoracic dystrophy type II)

  • Kidneys - Cystic renal dysplasia and hypoplasia, nephronophthisis or interstitial nephritis (diffuse interstitial and periglomerular fibrosis, round cell lymphocytic infiltration, hyalinized glomeruli, pericapsular thickening, thickened basement membrane, dilated or atrophic tubules), pyelonephritis with scarring, and distortion of renal parenchyma

  • Liver - Periportal hepatic fibrosis, bile duct proliferation, and early cirrhosis