Juene syndrome is
Juene syndrome : Autosomal recessive disorder. Characterised by typical skeletal dysplasia such as narrow thorax and micromelia with respiratory and renal manifestations. Classic manifestations in infancy include dwarfism with sho ribs, sho limbs and characteristic radiographic changes in limbs. All patients have small chest but presentation varies. Patients who survive newborn period may later develop pancreatic and renal insufficiency. FIGURE 1 Characteristics of Jeune syndrome. A. Neonate with a bell-shaped chest, protuberant appearing abdomen, and mild shoening of the limbs. B. Radiograph of a neonate poraying the characteristic sho, horizontal ribs, costochondral flaring, and handlebar-shaped clavicles associated with Jeune syndrome. Reference: GHAI Essential pediatrics, 8th edition
Autosomal Recessive
Autosomal Dominant
X Linked Dominant
X Linked Recessive
Genetic and genetic disorders