Jeune Syndrome (Asphyxiating Thoracic Dystrophy)

Incidence in USA: 1:100,000-130,000 live births and prevalence of 2.6:100,000.

No race or sex predilection.

Skeletal survey by US after 14 wk gestation can detect defining deformities.

Heterogeneous presentation, from mild to fatal.

70–80% mortality in infancy for severe cases

Respiratory failure from small thoracic cage and hypoplastic lungs; frequent infection in those with ciliary dysmotility

Progressive renal disease with cystic lesions and periglomerular fibrosis

Liver and pancreatic involvement with fibrosis and cysts

Hypoxic and/or hypercapnic respiratory failure.

Barotrauma with positive pressure ventilation.

Renal failure requiring careful fluid and electrolyte management and selection of nonrenally cleared muscle relaxants and opiates.

Liver involvement, and rarely cirrhosis, may affect drug metabolism.

Rare autosomal recessive disease with skeletal dysplasia and variable renal, hepatic, and eye abnormalities; variable involvement of CNS and GI systems.

Overlap of findings with Ellis-van Creveld syndrome, short rib polydactyly syndrome, and oral-facial-digital syndromes.

Poor survival beyond early infancy.

Narrow, rigid thoracic cage due to short horizontal ribs, short limbs, underdeveloped iliac wings and acetabula and occasional polydactyly.

Respiratory failure from restrictive thorax and hypoplastic lungs.

Possible renal, hepatic, and pancreatic dysfunction if pt survives infancy.

Chronic renal failure can lead to transplantation.

Hepatic dysfunction can be controlled with ursodeoxycholic acid but those with severe portal Htn require liver transplantation.

Occasional pulm Htn and cor pulmonale.

Surgical enlargement of the thorax has been undertaken to increase chest wall compliance.

Autosomal recessive inheritance, variable phenotype

Postulated involvement of chromosome 15q13 or IFT80 gene on chromosome 3