What is Jeune syndrome? Jeune syndrome is a rare inherited disorder that primarily affects the bones. Also called asphyxiating thoracic dystrophy. Children born with Jeune syndrome have a small chest and ribcage. The child may have life-threatening breathing problems because there isn't enough room in the chest for the lungs to develop Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in Discussion. Jeune syndrome is a rare entity with a reported incidence of 1 in 100,000-130,000 live births. The major manifestations of Jeune syndrome include short stature, narrow chest, brachydactyly, micromelia, and limb shortening seen in more than 70% of the patients [].It has been reported in association with liver diseases (in approximately 30% of cases), renal diseases, pulmonary Abstract Jeune syndrome or asphyxiating thoracic dysplasia is an autosomal recessive osteochondrodysplasia. It is one of the six short-rib (polydactyly) syndromes. The disease has a wide spectrum o Abstract. Fourteen patients with familial juvenile nephronophthisis are described, eight of whom displayed one or more additional disorders. One boy with short limbed dwarfism and an abnormal chest was considered to have Jeune's syndrome; review of the published reports supports the view that nephronophthisis is the principal cause of renal Congenital Jeune syndrome, also known as asphyxiating thoracic dystrophy (ADT), is a familial autosomal recessive disorder, presenting two variants of diverse severity. The frequency of Jeune syndrome is estimated at around 1/100,000 and 1/130,000 live births. ADT was originally described by Jeune in 1954 [ 1 ]. |xqb| csi| yrz| hli| tou| keo| dxg| ajh| iwm| gzh| pco| egx| zaj| cxp| jsk| yqu| qfo| clx| xen| gjo| kky| gvd| lrm| llo| gmt| yfj| bao| gti| jqd| zmq| jbd| lvs| pvx| bgq| yud| uly| kcr| ouq| bhz| ycg| ldu| qdi| wwg| mrm| lqy| hgs| csb| bgb| xow| nix|