The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult.
A 32 year old American Indian man with the Jeune syndrome (asphyxiating thoracic dystrophy), a condition previously reported only in children, is described. The patient exhibited a cardiomyopathy of unknown etiology and evidence of hepatic and renal disease in addition to characteristic osseous malformations of the thorax, pelvis and extremities. The identification of an established syndrome in this patient permits one to view the combination of abnormalities present in a more coherent manner.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications; D006801:Humans; D008297:Male; D012131:Respiratory Insufficiency / Q000209:etiology*; D013577:Syndrome; D013896:Thoracic Diseases / Q000175:diagnosis