J. Blöcker, G. Hahn (Dresden)  

Viewable for logged on visitors (Log on)  

<1 Years  

N/A  

Syndromes  

congenital  

Prenatally, an obvious dysplastic thorax and polyhydramy was seen in ultrasound. At the time of birth, eutrophic newborn 37+1, 45 cm, 2590 grams, 45 cm, 35 cm head circumference. Clinically noticeable thorax dysplasia (long, narrow thorax) with congenital lung hypoplasia and respiratory insufficiency (long-term respiration).

Initally, patent ductus arteriosus and a small patent foramen ovale, which was no longer seen after 14 days.
Oligury (during treatment with furosemide, spironolactone, etacrynic acid, diuresis was normal), obvious flank edema.  

-Autosomal-recessive illness.
-Pathogenesis unknown.

Typical findings:
-short, horizontally running rib with widening of the costochondral connections; distally emphasized shortened and thickened long bones; three point configuration of the lower edge of the pelvis. Horizontal acetabula; early ossification of the femur head epiphyses
-cystic tubular dysplasia; renal insufficiency with proteinuria and arterial hypertension; Nephronophtisis, polycystic kidney, usually starting in grade school.

 

<- view X-Ray 1

X-ray 1: Thorax a. p. : short, horizontally running rib with widening of the costochondral connections.







<- view X-Ray 2

X-ray 2: pelvis a. p. : typical three point configuration of the lower edge




<- view X-Ray 3

X-ray 3: baby image: long bones (Femur/Humerus) appear shortened in comparison to the long thorax







 

Expert's opinion  

Forms of the short-rib-polydactaly-syndrome.  

Frequency:
- Over 50 published cases

Course/Prognosis:
- Early infancy is often not outlived
- Later, the kidney insufficiency determines the prognosis
- The dyspnea lessens, the thoracic dysplasia remains the same.
- Usually, normal intelligence  

Sonographic: Skull and abdomen unnoticeable.  

N/A  

1. Medline:
Wiedemann,Kunze
Atlas der klinischen Syndrome 5. Auflage
Schattauer GmbH 2001  

Asphyxiating thoracic dysplasia, Asphyxial thorax dysplasia, Jeune, Thorax, Asphyxiating, Dysplasia, child, childhood, pediatric radiology  

J Blöcker, G Hahn. Asphyxiating thoracic dysplasia (Jeune syndrome). PedRad [serial online] vol 3, no. 1.
URL: www.PedRad.info/?search=20030122112757