Re: pediatric cases [FONT=&]Diagnosis: Jeune syndrome (asphyxiating thoracic dystrophy)[/FONT][FONT=&] is notable for short stature, long and narrow thorax, hypoplastic lungs, fibrotic liver, and short limbs. Death is common, a result of pneumonia or asphyxia because of the abnormally shaped thorax. [/FONT] ***************************************************************** Xtra Edge This condition is a 'ciliopathy'. Other famous ciliopathies - Kartagener syndrome, Bradet-Biedl syndrome, Alstorm syndrome, Situs inversus and Polycystic kidney disease. Discussion: -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. Differentials Other causes of narrow chest are - Ellis-van Creveld syndrome and Thantotropic dysplasia the very small iliac bones on the Xray, go in favor of "Jeune syndrome"
