An Autopsy Case of Klippel‐Feil Syndrome with Cardiovascular Anomalies and Upper Limb Anomaly

Abstract

Abstract An autopsy case of Klippel‐Feil syndrome with the classical triad of short neck, low posterior hairline and limitation of neck movement is reported. The patient died of cardiac failure resulting from complicated serious cardiovascular anomalies such as double outlet right ventricle, congenital mitral valve stenosis and coarctation of aorta. The condition was also complicated by radial ray deficiency of the left arm and asymmetry of the thyroid gland. Narrowing of the left subclavian and axillary arteries was detected by angiography while the patient was alive, a finding which may suggest the etiology of this congenital anomaly complex.