[Asphyxiating thoracic dysplasia or Jeune's syndrome. Description of 2 mild familial cases].
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.
Capilupi
B
B
Divisione di Ortopedia e Traumatologia, Ospedale del Bambini "Umberto I" di Brescia, Italia.
Olappi
G
G
Cornaglia
A M
AM
Novati
G P
GP
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D010384:Pelvic Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*
La displasia toracica asfissiante o sindrome di Jeune. Descrizione di due casi lievi familiari.