Spondylothoracic dysplasia (Jarcho-Levin syndrome) in a Chinese baby

Abstract

Spondylothoracic dysplasia (STD) syndrome or the Jarcho-Levin syndrome has been seen commonly in Puerto Ricans. A case of STD syndrome in a Chinese baby which we believe is the first reported case in an Asian baby is reported. The skeletal disorder syndrome affecting the spine, ribs and thorax is an autosomal recessive disorder with associated non-skeletal anomalies. It should not be confused with the phenotypically similar skeletal disorder known as spondylocostal dysplasia, which is an autosomal dominant disease.