Asphyxiating thoracic dysplasia

Asphyxiating thoracic dysplasia, also known as Jeune syndrome, is a type of rare short limb skeletal dysplasia, which is primarily characterised by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of the short rib polydactyly syndromes ref.

Autosomal recessive inheritance with estimated incidence at around 1:70,000 births ref.

Genetics
  • thought to carry an autosomal recessive inheritance 8
Complications

There can be significant variation in the clinical spectrum. Features include:

Skeletal
  • thoracic
    • short narrow elongated chest shape (can be bell-shaped): may be seen as a narrow fetal thorax antenatally
    • high riding clavicles ("handlebar clavicles") 12
    • irregular costochondral junctions 13
  • other skeletal
    • dysplastic acetabula with flat acetabular roof 13
    • trident acetabula
    • short and flared iliac bones 13
    • ischial and pubic bones with medial and lateral spurs 13
    • premature closure of capital femoral epiphysis
    • short broad phalanges
    • short distal limbs (acromelic dwarfism)
    • polydactyly (often post axial): 14% 4
    • coned epiphyses
Abdominopelvic

The prognosis can be variable as a result of the marked phenotypic variation. In those who survive severe pulmonary symptoms in the first year of life, there can be an improvement in the skeletal and thoracic deformity with relative growth of the thoracic cage post birth. Most of the mortality is due to respiratory compromise.

It was first described by M Jeune in 1955 2.

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Article information

rID: 13486
Section: Syndromes
Synonyms or Alternate Spellings:
  • Jeune disease
  • Jeune syndrome
  • Asphyxiating thoracic dystrophy
  • Jeune's thoracic dystrophy
  • Thoracic dysplasia with asphyxiaion
  • Thoracic-Pelvic-Phalangeal Dystrophy

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