Congenital synspondylism

Abstract

We present 3 patients with a specific pattern of congenital familial extensive vertebral anomalies (CFEVA) with vertebral and carpal coalition. It is proposed that these patients and two previously reported cases have a vertebral disorder akin to symphalangism in the fingers. The name synspondylism is proposed. Two instances of sib recurrence point to Mendelian segregation in some instances of synspondylism. The syndromes and associations encompassed by CEFVA are reviewed. The clinical and radiographic manifestations of congenital synspondylism are discussed in the perspective of the possible pathogenesis of segmentation disorders of the spine.