A Case of Spondylothoracic Dysplasia with Congenital Heart Disease

ABSTRACT

We experienced a case of spondylothoracic dysplasia in a 1 day old male who has short neck with limitation of movement, asymmetric thorax, marked scoliosis and a systolic heart murmur. He was born with normal weight and full term. The history of his family and mother is not specific. On x-ray, multiple hemivertebrae in thorax, spina bifida and maldevelopmental thoacic cavity were detected. On echocardiogram, he had small ASD and PDA.