Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

Abstract

Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Renal, hepatic, pancreatic and ocular complications may occur later in life. We describe 13 cases with ages ranging from 9 months to 22 years. Most patients experienced respiratory problems in the first years of their life, three died, one experienced renal complications, and one had hepatic problems. With age, the thoracic malformation tends to become less pronounced and the respiratory problems decrease. The prognosis of ATD seems better than described in literature and in our opinion this justifies long term intensive treatment in the first years. We also propose a follow-up protocol for patients with ATD.

Fig. 1

Patient 12 at 5 years of age. Note the narrow chest.

Fig. 2

X-ray of the pelvis of patient 12 shortly after birth. Note the typical trident appearance of the acetabula

Fig. 3

Chest X-ray of patient 12 at 5 years of age. Note the narrow thorax and short ribs

Fig. 4

X-ray of the left hand of patient 13 at the age of 4 months. Note short and dysplastic phalanges and the remainings of the postaxial polydactyly type B (arrow)

Fig. 5

Chest X-ray of patient 13 at the age of 6 months. Note the narrow thorax, short ribs and elevated clavicles

Fig. 6

Anthropometrics. The chest circumference of patient 3 is on the 75th centile, but it should be take into consideration her weight–height ratio was above the 90th centile.

Fig. 7

Sitting height/height ratio centiles