DefinePK

Abstract

Jeunes syndrome is an autosomal recessive disease in which there is narrow rib cage and short limbs. Majority of babies (almost 70%) suffering from the disease die in neonatal life or early infancy due to pulmonary hypoplasia and respiratory distress. Those who survive through respiratory failure suffers from chronic renal failure and growth retardation. Here in our institute a 2-year-old male baby was brought with history of recurrent respiratory infections and diagnosed as Jeunes syndrome clinically and radiologically. Child was given oxygen support and symptomatic treatment and discharged to home after 5 days.