[Asphyxiating thoracic dysplasia or Jeune's syndrome. Description of 2 mild familial cases]

Pediatr Med Chir. 1996 Sep-Oct;18(5):529-32.
[Article in Italian]

Abstract

Asphyxiating thoracic dystrophy or Jeune's syndrome is characterized by respiratory distress, osseus dysplasia and short stature. Kozlowski and Masel have described four groups: lethal, severe, mild and latent. The mild form is generally characterized by long, narrow thorax with a reduced thoracic cage capacity, short stature, sometimes short fingers, and progressive renal involvement. Differential diagnosis can be difficult in some cases with atypical clinical manifestations. The Authors report on two cases of the mild form of Jeune's syndrome in two sibs without renal involvement and respiratory distress.

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases, Developmental* / diagnostic imaging
  • Bone Diseases, Developmental* / pathology
  • Child
  • Female
  • Hand Deformities, Congenital* / diagnostic imaging
  • Hand Deformities, Congenital* / pathology
  • Humans
  • Infant
  • Male
  • Pelvic Bones / abnormalities*
  • Pelvic Bones / diagnostic imaging
  • Radiography
  • Syndrome
  • Thorax / abnormalities*