Larsen's syndrome.
A girl with the characteristic abnormalities of Larsen's syndrome is presented. A soft flabby consistence of the cartilaginous skeleton of the larynx and trachea was thought to be the cause of attacks of respiratory failure which suddenly caused her death at the age of 9 months. Microscopy revealed a considerably reduced number of elastic fibres in the larynx, trachea and bronchi. Closed reduction of the knee dislocation by skin traction seemed to be successful.
D000015:Abnormalities, Multiple / Q000235:genetics; D004825:Epiglottis / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D004204:Joint Dislocations / Q000151:congenital; D007717:Knee / Q000002:abnormalities; D009666:Nose / Q000002:abnormalities; D012131:Respiratory Insufficiency / Q000401:mortality; D013398:Sudden Infant Death; D013977:Tibia / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities